Centrosomal Protein, 135-kD

Alternative Names

  • CEP135
  • KIAA0635
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OMIM Number

611423

NCBI Gene ID

9662

Uniprot ID

Q66GS9

Length

84,554 bases

No. of Exons

26

No. of isoforms

2

Protein Name

Centrosomal protein of 135 kDa

Molecular Mass

133490 Da

Amino Acid Count

1140

Genomic Location

chr4:55,948,807-56,033,360

Gene Map Locus
4q12

Description

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_025009.5:c.2722C>TSaudi ArabiaNC_000004.12:g.56011905C>TPathogenicPathogenicMicrocephaly 8, Primary, Autosomal RecessiveNG_032806.1:g.68098C>T; NM_025009.5:c.2722C>T; NP_079285.2:p.Arg908Ter186530606982087
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