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

鸯铗痂蝈 蜞赕:

  • 绣鲥矧铕 嗣
  • 缅 疱鲥矧铕 嗣
  • 缅 疱鲥矧铕 彰