Coiled-Coil Domain-Containing Protein 8

Alternative Names

  • CCDC8

Associated Diseases

Three M Syndrome 3
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OMIM Number

614145

NCBI Gene ID

83987

Uniprot ID

Q9H0W5

Length

3,236 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Coiled-coil domain-containing protein 8

Molecular Mass

59374 Da

Amino Acid Count

538

Genomic Location

chr19:46,410,329-46,413,564

Gene Map Locus
19q13.32

Description

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032040.4:c.803_807delinsTSaudi ArabiaNC_000019.10:g.46412004_46412008delinsALikely PathogenicLikely PathogenicThree M Syndrome 3NG_031956.1:g.6655_6659delinsT; NM_032040.4:c.803_807delinsT; NP_114429.2:p.Lys268IlefsTer4019732377481028424
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