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RAB39B RAB39B, member RAS oncogene family

Also known as: WSMN; MRX72

Summary

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked mental retardation. [provided by RefSeq, Aug 2013]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2014-02-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2014-02-27)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (155258234..155264589, complement)
Total number of exons:
2

Links

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