Gene: [02p21/FSHR] follicle stimulating hormone receptor; ovarian dysgenesis 1 (hypergonadotropic; gonadal dysgenesis, type XX; MIM:233300); ovarian sex cord tumors; [ODG1 XXGD ]


COM

Rousseau-Merck-1993 used cDNA probes corresponding to the 5' and the 3' regions of the FSHR gene for chromosomal localization of the gene by in situ hybridization. They found that the location, 2p21-p16, is similar to that of the luteinizing hormone-choriogonadotropin receptor gene (GEM:02p21/LHCGR). Gromoll-1994 mapped FSHR to Chr 2p21 by fluorescence in situ hybridization."

FUN

Follicle-stimulating hormone (GEM:11p13/FSHB) is essential for normal reproductive function in males and females."

PEP

[1] The deduced amino acid sequence of FSH receptor consists of 678 residues and contains 7 putative transmembrane segments and displays sequence similarity to G-protein-coupled receptors; the 359-residue extracellular domain contains 4 N-linked glycosylation sites; the most highly conserved regions are the putative transmembrane segments, which show 95% similarity with rat FSH receptor (Minegish-1991).
[2] The predicted FSHR protein has 695 amino acid residues (Gromoll-1996)."

REL

GEM:11p13/FSHB.

GEN

The gene length: 54 kb; exons: 10; exon 10 is the largest: 1,234 bp (Gromoll-1996)."

REF

PAT,MUT,SEQ "Aittomaki K &: J Clin Endocrinol Metab, 81, N10, 3722-3726, 1996
PAT,MUT,SEQ "Aittomaki K &: Cell, 82, N6, 959-968, 1995
PAT,FOG "Aittomaki K: AJHG, 54, 844-851, 1994
GEN,SEQ "Gromoll J &: Genomics, 35, 308-311, 1996
PRO,LOC "Gromoll J &: J Mol Endocrinol, 12, 265-271, 1994
GEN,EXP,EVO "Heckert LL &: Mol Endocrinol, 6, N1, 70-80, 1992
CLO,EXP "Kelton CA &: Mol Cell Endocrinol, 89, 141-151, 1992
MUT,PAT "Kotlar TJ &: J Clin Endocrinol Metab, 82, 1020-1026, 1997
COD,SEQ,EVO "Minegishi T &: BBRC, 175, N3, 1125-1130, 1991
PRO,LOC,FAG "Rousseau-Merck MF &: Genomics, 15, 222-224, 1993
PAT,MUT "Tapanainen JS &: Nature Genet, 15, 205-206, 1997

SWI

SWISSPROT: P23945

KEY

recp, horm, sex

CLA

coding, basic

LOC

02 p21

MIM

MIM: 136435

SYN

ODG1 XXGD

鸯铗痂蝈 蜞赕:

  • 疱鲥矧铕 匝
  • 缅 疱鲥矧铕 匝