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RAB23 RAB23, member RAS oncogene family

Also known as: HSPC137

Summary

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Associated conditions

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DescriptionTests
Carpenter syndrome 1
MedGen: C1275078OMIM: 201000GeneReviews: Not available
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Genomic context

Location:
6p12.1-p11.2
Sequence:
Chromosome: 6; NC_000006.12 (57186992..57222314, complement)
Total number of exons:
8

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