Gene: [20q132/GNAS1] guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; adenylate cyclase stimulator GS, alpha-S1; Albright hereditary osteodystrophy (MIM:103580); pseudohypoparathyroidism Ia (Albright form; MIM:103580); McCune-Albriqht syndrome (MIM:174800); panostotic fibrous dysplasia (MIM:260490); [AHO PHP1A ]
FUN | The principal function of the alpha-S G protein is the stimulation of adenylate cyclase activity. In addition, it is capable of regulating Mg ions transport." |
GEN | The gene length is about 20 kb. Exons: 13; introns: 12. There is the only alpha-S G gene in the haploid human chromosomal complement. Four mRNA species are produced by alternative splicing. The mRNA length is about 1.9 kb. The promoter region is GC-rich (85%). It contains four GC blocks but no TATA and CAAT sequences. At least five mutations are known: two silent mutations in exon 5, a silent mutation in exon 1, and two mutations causing Albright osteodystrophy in exon 10." |
EXP | Four alpha-S peptides are known, which resulted from the mRNA alternative splicing. Each variant consists of a pair of short and a pair of long molecules (alpha-S-s and alpha-S-l, respectively), which differ in a 15-amino acid block encoded by exon 3. The molecules within pairs, in turn, differ in the presense/absence of a Ser in definite position." |
LIN | GNAS is linked with D20S15 {rf=0.042}. |
PAT | [1]
Albright hereditary osteodystrophy is a heterogeneous disease. Its
phenotype includes moon face, short stature, obesity, brachydactylia,
heterotopic subcutaneous ossification. Most patients manifest type I
pseudohypoparathyroidism, i.e., metabolic disorder characterized by the
resistence to parathyroid and other hormones participating in adenylate
cyclase stimulation, mental retardation, and disturbed olfaction. [2] On other types of pseudohypoparathyroidism, see MIM:203330/MIM:300800." |
REF | EAG,MAP "Ashley &: AJHG, 41, A155, 1987 SEQ "Bray P &: PNAS, 83, 8893-8897, 1986 MUT "Candeliere GA &: New Engl J Med, 332, 1546-1551, 1995 EXP "Carter &: PNAS, 84, N20, 7266-7269, 1987 LOC "Gejman PV &: Genomics, 9, 782-783, 1991 GEN "Gieman &: AJHG, 47, (Suppl), N3, 217, 1990 LOC "Gopal Rao VVN &: Genomics, 10, 257-261, 1991 CLO "Harris &: Science, 229, 1274-1277, 1985 GEN "Kozasa T &: PNAS, 85, N7, 2081-2085, 1988 LOC "Levine MA &: Genomics, 11, 478-479, 1991 EXP,MEB,PAT "Levine MA &: PNAS, 85, N2, 617-621, 1988 MUT "Malchoff CD &: J Clin Endocrinol Metab, 78, 803-806, 1994 EXP,MEB,PAT "Mattera &: Science, 243, (10 Feb), 804-807, 1989 LOC "Modi WS &: CCG, 58, (HGM11), 1860, 1991 MUT "Schwindinger WF &: PNAS, 89, 5152-5156, 1992 MUT "Shenker A &: Hum Mol Genet, 4, 1675-1676, 1995 MUT "Shenker A &: J Pediatr, 123, 509-518, 1993 LOC "Sparkes &: CCG, 46, (HGM9), 696, 1987 EAG,SEQ "Sullivan &: PNAS, 83, N18, 6687-6691, 1986 MUT "Weinstein LS &: Genomics, 13, 1319-1321, 1992 MUT "Williamson EA &: Eur J Clin Invest, 25, 128-131, 1995 MUT,MOL,FUN "Woon &: Biochemistry, 28, N11, 4547-4551, 1989 |
SWI | SWISSPROT: P04895 |
KEY | neu, horm, bone |
CLA | coding, basic |
LOC | 20 q13.2 |
MIM | MIM: 139320 |
SYN | AHO PHP1A |
