Gene: [02p21/LHCGR] luteinizing hormone/choriogonadotropin receptor; male pseudohermaphroditism with Leydig cell hypoplasia/agenesis; gonadotropin unresponsiveness (precocious puberty, familial male; MIM:176410); micropenis; [LCGR ]
REL | GEM:06q/CGA; GEM:19q133/CGB; GEM:19q133/LHB; GEM:02p21/FSHR. |
REF | MUT,PAT "Evans BAJ &:
J Med Genet, 33, 143-147, 1996 MUT,PAT "Kawate N &: J Med Genet, 32, 553-554, 1995 MUT,PAT "Kosugi S &: Hum Mol Genet, 4, 183-188, 1995 MUT,PAT "Kremer H &: Nature Genet, 9, 160-164, 1995 MUT,PAT "Kremer H &: Hum Mol Genet, 2, 1779-1783, 1993 MUT,PAT "Latronico AC &: New Engl J Med, 334, 507-512, 1996 MUT,HET "Laue L &: PNAS, 92, 1906-1910, 1995a MUT "Laue L &: Hum Mol Genet, 4, 1429-1433, 1995b MUT,PAT "Rosenthal IM &: J Clin Endocrinol Metab, 81, 3802-3806, 1996 PRO,LOC "Rousseau-Merck MF &: CCG, 54, 77-79, 1990 MUT,PAT "Toledo SPA &: J Clin Endocrinol Metab, 81, 3850-3854, 1996 MUT "Yano K &: J Clin Endocrinol, 80, 1162-1168, 1995 MUT "Yano K &: J Clin Endocrinol Metab, 79, 1818-1823, 1994 |
SWI | SWISSPROT: P22888 |
KEY | recp, horm, sex |
CLA | coding, basic |
LOC | 02 p21 |
MIM | MIM: 152790 |
SYN | LCGR |
