Polo-Like Kinase 4

Alternative Names

  • PLK4
  • Serine/Threonine Protein Kinase 18
  • STK18
  • SAK, Mouse, Homolog Of
  • SAK
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OMIM Number

605031

NCBI Gene ID

10733

Uniprot ID

O00444

Length

18,332 bases

No. of Exons

17

No. of isoforms

3

Protein Name

Serine/threonine-protein kinase PLK4

Molecular Mass

108972 Da

Amino Acid Count

970

Genomic Location

chr4:127,880,892-127,899,223

Gene Map Locus
4q28.1

Description

This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_014264.5:c.1299_1303delSaudi ArabiaNC_000004.12:g.127886669_127886673delPathogenicMicrocephaly And Chorioretinopathy, Autosomal Recessive, 2NG_041821.1:g.10809_10813del; NM_014264.5:c.1299_1303del; NP_055079.3:p.Phe433LeufsTer6724159996162401
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