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PAK3 p21 (RAC1) activated kinase 3

Gene ID: 5063, updated on 25-Jan-2022
Gene type: protein coding
Also known as: ARA; bPAK; MRX30; MRX47; OPHN3; PAK-3; XLID30; PAK3beta; beta-PAK

Summary

The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Mental retardation 30, X-linked
MedGen: C0796237OMIM: 300558GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2019-12-09)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2019-12-09)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq23
Sequence:
Chromosome: X; NC_000023.11 (110944324..111227361)
Total number of exons:
29

Links

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