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GNAS - GNAS complex locus
- Synonym(s) : GNASXL, G protein subunit alpha S, GPSA, NESP, NESP55, SCG6, secretogranin VI, SgVI
- Previous symbols and names : GNAS1, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1
- Type : gene with protein product
- Chromosomal location : 20q13.32
- OMIM: 139320
- HGNC: 4392
- UniProtKB: O95467 P63092 P84996 Q5JWF2
- Genatlas: GNAS
- Ensembl: ENSG00000087460
- IUPHAR-DB: -
- Reactome: P63092 Q5JWF2
- LOVD: GNAS
Diseases list
- Disease-causing germline mutation(s) in Pseudohypoparathyroidism type 1B
ORPHA:94089 
- Disease-causing germline mutation(s) in Pseudohypoparathyroidism type 1C
ORPHA:79444 - Disease-causing germline mutation(s) (loss of function) in Progressive osseous heteroplasia
ORPHA:2762 - Disease-causing germline mutation(s) (loss of function) in Pseudohypoparathyroidism type 1A
ORPHA:79443 - Disease-causing germline mutation(s) (loss of function) in Pseudopseudohypoparathyroidism
ORPHA:79445 - Disease-causing somatic mutation(s) in Cushing syndrome due to macronodular adrenal hyperplasia
ORPHA:189427 - Disease-causing somatic mutation(s) in McCune-Albright syndrome
ORPHA:562 - Disease-causing somatic mutation(s) in Monostotic fibrous dysplasia
ORPHA:93277 - Disease-causing somatic mutation(s) in Polyostotic fibrous dysplasia
ORPHA:93276 - Candidate gene tested in Mazabraud syndrome
ORPHA:57782
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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