Gene: [20q112/GHRF] growth hormone releasing factor (somatocrinin); growth hormone deficiency (due to somatocrinin defect?); [GHRH ]
FUN | Two hypothalamic releasing factors, growth hormone-releasing factor (GHRF) and somatostatin (GEM:03q28/SST), participate in regulating the complex process of growth hormone (GH) synthesis and secretion in the anterior pituitary. While GHRF or somatocrinin (Gubler-1983) functions as a specific stimulator of GH secretion, somatostatin may act as an inhibitory counterpart (Guillemin-1982)." |
PAT | Mutations in GHRF were assumed to result in diseases with growth hormone deficiency such as the familial isolated growth hormone deficiency (IGHD) and pituitary dwarfism (Mitrakou-1985; Thorner-1988)." |
GEN | The gene length is about 10 kb. Exons: 5; introns: 4. The five exons encode the functionally discrete domains of the precursor molecule, with exon 3 encoding most of the mature GHRF peptide. An Alu-repeat was identified upstream from exon 2 (Mayo-1985)." |
MOP | GHRF is a 44-amino acid peptide amidated at its COOH terminus. It is synthesized as a 107- and 108-amino acid precursor protein, preprosomatocrinin, with a MM of approximately 13 kD (Gubler-1983; Mayo-1983)." |
REF | FUN,ASS,SEQ,CLO
"Gubler U &: PNAS, 80, 4311-4314, 1983 FUN,PAT "Guillemin R &: Science, 218, 585-587, 1982 CLO,SEQ,ASS,GEN,EXP,LOC,CYG "Mayo KE &: PNAS, 82, N1, 63-67, 1985 PAT "Mitrakou &: Lancet, 1, 399-400, 1985 LOC,FUN "Rao VV &: CCG, 57, 39-40, 1991 CLO,SEQ,EXP,LOC,CYG "Riddell DC &: Somat Cell Mol Genet, 11, 189-195, 1985 FUN,PAT "Rivier &: Nature, 300, 276-278, 1982 LOC,CYG,MOL "Shohat &: CCG, 51, (HGM10), 1078, 1989 PAT,TER "Thorner &: Pediatr Res, 24, 145-151, 1988 |
SWI | SWISSPROT: P01286 |
KEY | neu, horm |
CLA | coding, basic |
LOC | 20 q11.2 |
MIM | MIM: 139190 |
SYN | GHRH |
Смотрите также:
