Gene: [13q22/EDNRB] endothelin receptor type B (non-specific); Waardenburg-Hirschsprung disease (MIM:277580); Hirschsprung disease 1 (HSCR1; recessive mutation; MIM:142623); Hirschsprung disease 2 (MIM:600155); [ETRB WS4 ]
FUN | A specific receptor for endothelin 1, 2 and 3. |
REF | MUT,PAT "Amiel J &:
Hum Mol Genet, 5, 355-357, 1996 LOC,GEN,SEQ "Arai H &: JBC, 268, 3463-3470, 1993 MUT,PAT "Attie T &: Hum Mol Genet, 4, 2407-2409, 1995 MUT,PAT "Auricchio A &: Hum Mol Genet, 5, 351-354, 1996 COD,SEQ "Cyr C &: BBRC, 181, 184-190, 1991 CLO,SEQ "Elshourbagy NA &: JBC, 268, 3873-3879, 1993 MUT,PAT "Hofstra RMW &: Nature Genet, 12, 445-447, 1996 COD,SEQ "Nakamuta M &: BBRC, 177, 34-39, 1991 COD,SEQ "Ogawa Y &: BBRC, 178, 248-255, 1991 MUT,PAT "Puffenberger EG &: Cell, 79, 1257-1266, 1994 |
SWI | SWISSPROT: P24530 |
KEY | card, horm, recp, mem |
CLA | coding, basic |
LOC | 13 q22 |
MIM | MIM: 131244 |
SYN | ETRB WS4 |
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