KIAA0586 Gene

Alternative Names

  • KIAA0586
  • TALPID 3, Chicken, Homolog of
  • TALPID3
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OMIM Number

610178

NCBI Gene ID

9786

Uniprot ID

Q9BVV6

Length

123,913 bases

No. of Exons

39

No. of isoforms

4

Protein Name

Protein TALPID3

Molecular Mass

169307 Da

Amino Acid Count

1533

Genomic Location

chr14:58,427,385-58,551,297

Gene Map Locus
14q23.1

Description

This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001244189.2:c.230C>GLebanonchr14:58428458PathogenicPathogenicShort-Rib Thoracic Dysplasia 14 With PolydactylyNG_051335.2:g.6074C>G; NM_001244189.2:c.230C>G; NP_001231118.1:p.Ser77Ter797045119208812
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