Gene: RAB3GAP1

Alternate names for this Gene: P130|RAB3GAP|RAB3GAP130|WARBM1

Gene Summary: This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q21.3

Description of this Gene: RAB3 GTPase activating protein catalytic subunit 1

Type of Gene: protein-coding

Gene: ZRANB3

Alternate names for this Gene: 4933425L19Rik|AH2

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q21.3

Description of this Gene: zinc finger RANBP2-type containing 3

Type of Gene: protein-coding

rs4954223 in RAB3GAP1;ZRANB3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs6730157 in RAB3GAP1;ZRANB3 gene and Sudden Cardiac Death PMID 23593153 2013 Two newly identified loci were significantly associated with increased risk of SCD after correction for multiple comparisons at: rs6730157 in the RAB3GAP1 gene on chromosome 2 (P = 4.93×10(-12), OR = 1.60) and rs2077316 in the ZNF365 gene on chromosome 10 (P = 3.64×10(-8), OR = 2.41).