PubMed:11574907 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/11574907","sourcedb":"PubMed","sourceid":"11574907","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/11574907","text":"Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.\nOculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. OCA2 (MIM 203200), the most common form of OCA, is associated with mutations of the P gene and accounts for approximately 50% of OCA worldwide. OCA3 (MIM 203290), a rare form of OCA and also known as \"rufous/red albinism,\" is associated with mutations in TYRP1 (encoding tyrosinase-related protein 1). Analysis of the TYR and P genes in patients with OCA suggests that other genes may be associated with OCA. We have identified the mouse underwhite gene (uw) and its human orthologue, which underlies a new form of human OCA, termed \"OCA4.\" The encoded protein, MATP (for \"membrane-associated transporter protein\") is predicted to span the membrane 12 times and likely functions as a transporter.","tracks":[{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":91,"end":114},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":116,"end":120},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":122,"end":145},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":147,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":214,"end":217},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":238,"end":254},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":343,"end":352},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":366,"end":376},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":433,"end":437},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":469,"end":480},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":526,"end":529},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":551,"end":555},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":736,"end":739},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":751,"end":755},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":794,"end":797},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":880,"end":883},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":895,"end":899},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18","span":{"begin":929,"end":932},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":963,"end":971},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":1102,"end":1105},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T21","span":{"begin":1155,"end":1158},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T22","span":{"begin":1272,"end":1275},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T23","span":{"begin":1285,"end":1289},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0018910"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0011683"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0018910"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0018910"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0018910"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0007459"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0005712"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0003432"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0002531"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0002898"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0018910"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0018135"},{"id":"A13","pred":"mondo_id","subj":"T13","obj":"0018910"},{"id":"A14","pred":"mondo_id","subj":"T14","obj":"0008746"},{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0018910"},{"id":"A16","pred":"mondo_id","subj":"T16","obj":"0018910"},{"id":"A17","pred":"mondo_id","subj":"T17","obj":"0008747"},{"id":"A18","pred":"mondo_id","subj":"T18","obj":"0018910"},{"id":"A19","pred":"mondo_id","subj":"T19","obj":"0043209"},{"id":"A20","pred":"mondo_id","subj":"T20","obj":"0018910"},{"id":"A21","pred":"mondo_id","subj":"T21","obj":"0018910"},{"id":"A22","pred":"mondo_id","subj":"T22","obj":"0018910"},{"id":"A23","pred":"mondo_id","subj":"T23","obj":"0011683"},{"subj":"T1","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T2","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T3","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T4","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T5","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T6","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T7","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T8","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T9","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T10","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T11","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T12","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T13","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T14","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T15","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T16","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T17","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T18","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T19","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T20","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T21","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T22","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T23","pred":"source","obj":"PMID_GLOBAL"}]},{"project":"FSU-PRGE","denotations":[{"id":"T1","span":{"begin":47,"end":57},"obj":"protein"},{"id":"T2","span":{"begin":64,"end":66},"obj":"protein"},{"id":"T3","span":{"begin":605,"end":608},"obj":"protein"},{"id":"T4","span":{"begin":623,"end":633},"obj":"protein"},{"id":"T5","span":{"begin":835,"end":836},"obj":"protein"},{"id":"T6","span":{"begin":1006,"end":1011},"obj":"protein"},{"id":"T7","span":{"begin":1022,"end":1050},"obj":"protein"},{"id":"T8","span":{"begin":1069,"end":1072},"obj":"protein"},{"id":"T9","span":{"begin":1077,"end":1078},"obj":"protein"},{"id":"T10","span":{"begin":1189,"end":1199},"obj":"protein"},{"id":"T11","span":{"begin":1206,"end":1208},"obj":"protein"},{"id":"T12","span":{"begin":1313,"end":1317},"obj":"protein"},{"id":"T13","span":{"begin":1324,"end":1363},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"FSU-PRGE"},{"subj":"T2","pred":"source","obj":"FSU-PRGE"},{"subj":"T3","pred":"source","obj":"FSU-PRGE"},{"subj":"T4","pred":"source","obj":"FSU-PRGE"},{"subj":"T5","pred":"source","obj":"FSU-PRGE"},{"subj":"T6","pred":"source","obj":"FSU-PRGE"},{"subj":"T7","pred":"source","obj":"FSU-PRGE"},{"subj":"T8","pred":"source","obj":"FSU-PRGE"},{"subj":"T9","pred":"source","obj":"FSU-PRGE"},{"subj":"T10","pred":"source","obj":"FSU-PRGE"},{"subj":"T11","pred":"source","obj":"FSU-PRGE"},{"subj":"T12","pred":"source","obj":"FSU-PRGE"},{"subj":"T13","pred":"source","obj":"FSU-PRGE"}]},{"project":"PIR-corpus2","denotations":[{"id":"T1","span":{"begin":605,"end":608},"obj":"protein"},{"id":"T2","span":{"begin":623,"end":633},"obj":"protein"},{"id":"T3","span":{"begin":1006,"end":1011},"obj":"protein"},{"id":"T4","span":{"begin":1022,"end":1050},"obj":"protein"},{"id":"T5","span":{"begin":1069,"end":1072},"obj":"protein"},{"id":"T6","span":{"begin":1313,"end":1317},"obj":"protein"},{"id":"T7","span":{"begin":1324,"end":1355},"obj":"protein"},{"id":"T8","span":{"begin":1435,"end":1446},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"PIR-corpus2"},{"subj":"T2","pred":"source","obj":"PIR-corpus2"},{"subj":"T3","pred":"source","obj":"PIR-corpus2"},{"subj":"T4","pred":"source","obj":"PIR-corpus2"},{"subj":"T5","pred":"source","obj":"PIR-corpus2"},{"subj":"T6","pred":"source","obj":"PIR-corpus2"},{"subj":"T7","pred":"source","obj":"PIR-corpus2"},{"subj":"T8","pred":"source","obj":"PIR-corpus2"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11574907-0#47#57#gene51151","span":{"begin":47,"end":57},"obj":"gene51151"},{"id":"11574907-0#91#114#diseaseC0078918","span":{"begin":91,"end":114},"obj":"diseaseC0078918"},{"id":"11574907-7#0#4#gene4948","span":{"begin":751,"end":755},"obj":"gene4948"},{"id":"11574907-7#43#46#diseaseC0078918","span":{"begin":794,"end":797},"obj":"diseaseC0078918"},{"id":"11574907-7#129#132#diseaseC0078918","span":{"begin":880,"end":883},"obj":"diseaseC0078918"},{"id":"11574907-8#0#4#gene7306","span":{"begin":895,"end":899},"obj":"gene7306"},{"id":"11574907-8#111#116#gene7306","span":{"begin":1004,"end":1009},"obj":"gene7306"},{"id":"11574907-8#127#155#gene7306","span":{"begin":1020,"end":1048},"obj":"gene7306"},{"id":"11574907-8#34#37#diseaseC0078918","span":{"begin":929,"end":932},"obj":"diseaseC0078918"},{"id":"11574907-8#68#76#diseaseC0001916","span":{"begin":962,"end":970},"obj":"diseaseC0001916"},{"id":"11574907-8#34#37#diseaseC0078918","span":{"begin":929,"end":932},"obj":"diseaseC0078918"},{"id":"11574907-8#68#76#diseaseC0001916","span":{"begin":962,"end":970},"obj":"diseaseC0001916"},{"id":"11574907-8#34#37#diseaseC0078918","span":{"begin":929,"end":932},"obj":"diseaseC0078918"},{"id":"11574907-8#68#76#diseaseC0001916","span":{"begin":962,"end":970},"obj":"diseaseC0001916"},{"id":"11574907-9#16#19#gene7299","span":{"begin":1069,"end":1072},"obj":"gene7299"},{"id":"11574907-9#49#52#diseaseC0078918","span":{"begin":1102,"end":1105},"obj":"diseaseC0078918"},{"id":"11574907-9#102#105#diseaseC0078918","span":{"begin":1155,"end":1158},"obj":"diseaseC0078918"}],"relations":[{"id":"47#57#gene5115191#114#diseaseC0078918","pred":"associated_with","subj":"11574907-0#47#57#gene51151","obj":"11574907-0#91#114#diseaseC0078918"},{"id":"0#4#gene494843#46#diseaseC0078918","pred":"associated_with","subj":"11574907-7#0#4#gene4948","obj":"11574907-7#43#46#diseaseC0078918"},{"id":"0#4#gene4948129#132#diseaseC0078918","pred":"associated_with","subj":"11574907-7#0#4#gene4948","obj":"11574907-7#129#132#diseaseC0078918"},{"id":"0#4#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#0#4#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"0#4#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#0#4#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"0#4#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#0#4#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"0#4#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#0#4#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"0#4#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#0#4#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"0#4#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#0#4#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"111#116#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#111#116#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"111#116#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#111#116#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"111#116#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#111#116#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"111#116#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#111#116#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"111#116#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#111#116#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"111#116#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#111#116#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"127#155#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#127#155#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"127#155#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#127#155#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"127#155#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#127#155#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"127#155#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#127#155#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"127#155#gene730634#37#diseaseC0078918","pred":"associated_with","subj":"11574907-8#127#155#gene7306","obj":"11574907-8#34#37#diseaseC0078918"},{"id":"127#155#gene730668#76#diseaseC0001916","pred":"associated_with","subj":"11574907-8#127#155#gene7306","obj":"11574907-8#68#76#diseaseC0001916"},{"id":"16#19#gene729949#52#diseaseC0078918","pred":"associated_with","subj":"11574907-9#16#19#gene7299","obj":"11574907-9#49#52#diseaseC0078918"},{"id":"16#19#gene7299102#105#diseaseC0078918","pred":"associated_with","subj":"11574907-9#16#19#gene7299","obj":"11574907-9#102#105#diseaseC0078918"}],"attributes":[{"subj":"11574907-0#47#57#gene51151","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-0#91#114#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-7#0#4#gene4948","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-7#43#46#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-7#129#132#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#0#4#gene7306","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#111#116#gene7306","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#127#155#gene7306","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#34#37#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#68#76#diseaseC0001916","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#34#37#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#68#76#diseaseC0001916","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#34#37#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-8#68#76#diseaseC0001916","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-9#16#19#gene7299","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-9#49#52#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11574907-9#102#105#diseaseC0078918","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"PIR-corpus1","denotations":[{"id":"T1","span":{"begin":623,"end":633},"obj":"protein"},{"id":"T2","span":{"begin":1006,"end":1011},"obj":"acronym"},{"id":"T3","span":{"begin":1022,"end":1050},"obj":"protein"},{"id":"T4","span":{"begin":1304,"end":1311},"obj":"protein"},{"id":"T5","span":{"begin":1313,"end":1317},"obj":"acronym"},{"id":"T6","span":{"begin":1324,"end":1355},"obj":"protein"},{"id":"T7","span":{"begin":1435,"end":1446},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"PIR-corpus1"},{"subj":"T2","pred":"source","obj":"PIR-corpus1"},{"subj":"T3","pred":"source","obj":"PIR-corpus1"},{"subj":"T4","pred":"source","obj":"PIR-corpus1"},{"subj":"T5","pred":"source","obj":"PIR-corpus1"},{"subj":"T6","pred":"source","obj":"PIR-corpus1"},{"subj":"T7","pred":"source","obj":"PIR-corpus1"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1189,"end":1199},"obj":"gene:51151"},{"id":"T1","span":{"begin":1272,"end":1275},"obj":"disease:C0078918"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PMID_GLOBAL","color":"#ec93c5","default":true},{"id":"FSU-PRGE","color":"#93dfec"},{"id":"PIR-corpus2","color":"#ecdf93"},{"id":"DisGeNET5_gene_disease","color":"#c593ec"},{"id":"PIR-corpus1","color":"#93ecab"},{"id":"DisGeNET","color":"#ec9394"}]}]}}