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Gene : RAB3GAP1 Homo sapiens

Name  ? RAB3 GTPase activating protein catalytic subunit 1 Cytological Location  2q21.3
Brief Description  RAB3 GTPase activating protein catalytic subunit 1
description  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.[provided by RefSeq, Feb 2010]
  • synonyms:
  • RAB3 GTPase activating protein subunit 1 (catalytic),
  • RAB3GAP,
  • WARBM1,
  • uc002tuj.4,
  • WARBM1,
  • RAB3GAP1,
  • RAB3GAP130,
  • P130,
  • RAB3GAP130,
  • OTTHUMG00000154889,
  • HGNC:17063,
  • RAB3GAP,
  • NM_012233,
  • KIAA0066,
  • D31886
  • identifiers:
  • 22930,
  • ENSG00000115839,
  • RAB3GAP1

Genome feature

Region: gene ? Length: 124403  
Location: 2:135052265-135176667 Cyto location: 2q21.3


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SNPs

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Disease

1 Diseases

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Expression

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Other

73 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results