Search for a gene
AP1S2 - adaptor related protein complex 1 subunit sigma 2
- Synonym(s) : SIGMA1B
- Previous symbols and names : MRX59, MRXS5, PGS, Pettigrew X-linked mental retardation syndrome, adaptor related protein complex 1 sigma 2 subunit, adaptor-related protein complex 1 sigma 2 subunit, adaptor-related protein complex 1, sigma 2 subunit, mental retardation, X-linked 59, mental retardation, X-linked, syndromic 5
- Type : gene with protein product
- Chromosomal location : Xp22.2
- OMIM: 300629
- HGNC: 560
- UniProtKB: P56377
- Genatlas: AP1S2
- GenCC: AP1S2
- Ensembl: ENSG00000182287
- IUPHAR-DB: -
- Reactome: P56377
- LOVD: AP1S2
Diseases list
- Disease-causing germline mutation(s) in Fried syndrome
ORPHA:85335 
- Disease-causing germline mutation(s) in X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
ORPHA:1568 - Disease-causing germline mutation(s) in X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
ORPHA:85329
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.