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RAB3GAP1

RAB3GAP1

Protein-coding gene in the species Homo sapiens

protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene. Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated

RAB3GAP1

Warburg Micro syndrome

Medical condition

Warburg Micro is caused by mutations in any of the following genes: RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 Warburg Micro syndrome is diagnosed by genetic testing

Warburg Micro syndrome

Warburg_Micro_syndrome

RAB18

Protein-coding gene in the species Homo sapiens

Mutations in RAB18, RAB3GAP1, RAB3GAP2, or TBC1D20 are thought to cause Warburg Micro syndrome by disrupting RAB18 function. RAB3GAP1, RAB3GAP2, and TBC1D20

RAB18

Microphthalmia

Birth defect of the eye

NDUFB11 NHS OTX2 PAX2 PAX6 PDE6D PIGL POLR1C POLR1D PORCN PQBP1 PRSS56 PTCH1 RAB3GAP1 RAB3GAP2 RARB RAX RBP4 RPGRIP1L SALL1 SALL2 SALL4 SCLT1 SEMA3E SHH SIX3

Microphthalmia

RAB3GAP2

Protein-coding gene in the species Homo sapiens

activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; MIM 602536) and a 150-kD noncatalytic subunit (RAB3GAP2) (Nagano et al

RAB3GAP2

Syndromic microphthalmia

Developmental disorder involving the eye

WNT3 AR Tetra-amelia syndrome SALL1 AD Townes–Brocks syndrome PUF60 AD Verheij syndrome RAB3GAP1, RAB3GAP2, RAB18, TBC1D20 AR Warburg Micro syndrome 1-4

Syndromic microphthalmia

Syndromic_microphthalmia

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

heterotaxy 606325 Walker–Warburg syndrome 236670 Warburg Micro syndrome 615663 RAB3GAP1 X‐linked congenital hydrocephalus 307000 L1CAM X‐linked lissencephaly 300067

Ciliopathy

Housekeeping gene

Gene which maintains basic cellular functions

NM_030981 RAB21 NM_014999 RAB22A NM_020673 RAB2A NM_002858 RAB2B NM_001163380 RAB3GAP1 NM_012233 RAB3GAP2 NM_012414 RAB40C NM_021168 RAB4A NM_004578 RAB5A NM_004162

Housekeeping gene

Housekeeping_gene

List of OMIM disorder codes

MITF Wagner syndrome 1; 143200; VCAN Warburg micro syndrome 1; 600118; RAB3GAP1 Warfarin resistance; 122700; VKORC1 Warfarin sensitivity; 122700; CYP2C9

List of OMIM disorder codes

List_of_OMIM_disorder_codes

List of human protein-coding genes 6

P20337 13262 RAB3C HGNC:30269; Q96E17 13263 RAB3D HGNC:9779; O95716 13264 RAB3GAP1 HGNC:17063; Q15042 13265 RAB3GAP2 HGNC:17168; Q9H2M9 13266 RAB3IL1 HGNC:9780;

List of human protein-coding genes 6

List_of_human_protein-coding_genes_6