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RAB3GAP1 - RAB3 GTPase activating protein catalytic subunit 1
- Synonym(s) : KIAA0066, RAB3GAP, RAB3GAP130, WARBM1
- Previous symbols and names : RAB3 GTPase activating protein subunit 1 (catalytic)
- Type : gene with protein product
- Chromosomal location : 2q21.3
- OMIM: 602536
- HGNC: 17063
- UniProtKB: Q15042
- Genatlas: RAB3GAP1
- GenCC: RAB3GAP1
- Ensembl: ENSG00000115839
- IUPHAR-DB: -
- Reactome: Q15042
- LOVD: RAB3GAP1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Cataract-intellectual disability-hypogonadism syndrome
ORPHA:1387 
- Disease-causing germline mutation(s) (loss of function) in Micro syndrome
ORPHA:2510
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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