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OMIM_Unknown@xiajingbo:107269-1-CD44 JSONTXT

The Indian blood group (609027) comprises 2 antigens, In(a) and In(b), which reside on CD44. By RT-PCR analysis of cDNA extracted from In(a+b-)-transformed B lymphocytes, Telen et al. (1996) identified the CD44 polymorphism that causes the In(b-) phenotype. The G-to-C change at nucleotide 252 results in an arg46-to-pro change (R46P), removing the basically charged amino acid at the C terminus of the hyaluronan (HA)-binding motif of CD44. In previous studies using chimeric proteins, arg46 was shown to be crucial for HA binding by CD44 (Yang et al., 1994). However, Telen et al. (1996) demonstrated that the R46P change does not reduce HA binding to CD44.

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