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PGAP2 - post-GPI attachment to proteins 2
- Synonym(s) : Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae), cell wall biogenesis 43 N-terminal homolog (S. cerevisiae), CWH43-N, FGF receptor activating protein 1, FRAG1
- Previous symbols and names : 'mental retardation, non-syndromic, autosomal recessive, 17', MRT17, MRT21, mental retardation, non-syndromic, autosomal recessive, 21
- Type : gene with protein product
- Chromosomal location : 11p15.4
- OMIM: 615187
- HGNC: 17893
- UniProtKB: Q9UHJ9
- Genatlas: PGAP2
- GenCC: PGAP2
- Ensembl: ENSG00000148985
- IUPHAR-DB: -
- Reactome: -
- LOVD: PGAP2
Diseases list
- Disease-causing germline mutation(s) in Hyperphosphatasia-intellectual disability syndrome
ORPHA:247262 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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