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Immunogen sequence: MGRHVATSC HVAWLLVLIS GCWGQVNRLP FFTNHFFDTY LLISEDTPVG SSVTQLLAQD MDNDPLVFGV SGEEASRFFA VEPDTGVVWL RQPLDRETKS EFTVEFSVSD HQGVITRKVN IQVGDVNDNA PTFHNQPYSV RIPENTPVGT PIFIVNATDP DLGAGGSVLY SFQPPSQFFA IDSARGIVTV IRELDYETTQ AYQLTVNATD QDKTRPLSTL ANLAIIITDV QDMDPIFINL PYSTNIYEHS PPGTTVRIIT AIDQDKGRPR GIGYTIVSGN TNSIFALDYI SGVLTLNGLL DRENPLYSHG FILTVKGTEL NDDRTPSDAT VTTTFNILVI DINDNAPEFN SSE (1-352 aa encoded by BC032581)
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Alternative splice variants encoding different isoforms have been described.
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