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 |
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