Centrosomal Protein 120

Alternative Names

  • CEP120
  • Centrosomal Protein, 120-KDa
  • Coiled-Coil Domain-Containing Protein 100
  • CCDC100
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OMIM Number

613446

NCBI Gene ID

153241

Uniprot ID

Q8N960

Length

78,953 bases

No. of Exons

25

No. of isoforms

3

Protein Name

Centrosomal protein of 120 kDa

Molecular Mass

112640 Da

Amino Acid Count

986

Genomic Location

chr5:123,344,889-123,423,841

Gene Map Locus
5q23.2

Description

This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001375405.1:c.49+5_49+10delins477PalestineNC_000005.10:g.123422940_123422945delins477Likely PathogenicJoubert Syndrome 31NM_001375405.1:c.49+5_49+10delins477
NM_001375405.1:c.595G>CSaudi ArabiaNC_000005.10:g.123399153C>GPathogenicPathogenicShort-Rib Thoracic Dysplasia 13 with or without PolydactylyNG_042125.1:g.29440G>C; NM_001375405.1:c.595G>C; NP_001362334.1:p.Ala199Pro367600930189370
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