p21 Protein-Aactivated Kinase 3

Alternative Names

  • PAK3
  • p21 CDC42/RAC1-Activated Kinase 3
  • Oligophrenin 3
  • OPHN3
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OMIM Number

300142

NCBI Gene ID

5063

Uniprot ID

O75914

Length

283,077 bases

No. of Exons

29

No. of isoforms

4

Protein Name

Serine/threonine-protein kinase PAK 3

Molecular Mass

559

Amino Acid Count

62310

Genomic Location

chrX:110,944,285-111,227,361

Gene Map Locus
Xq23

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001128166.2:c.1279T>CUnited Arab EmiratesNC_000023.11:g.111196512T>CLikely PathogenicMental Retardation, X-Linked 30NG_008288.2:g.257228T>C; NM_001128166.2:c.1279T>C; NP_001121638.1:p.Tyr427His
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