CCDC8
Sign in to saveAlso known as 3M3, PPP1R20, p90, coiled-coil domain containing 8
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
Gene data
CCDC8- Name
- coiled-coil domain containing 8 subunit of 3M complex
- Type
- protein-coding
- Aliases
- 3M3, PPP1R20, p90
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). [provided by RefSeq, Dec 2011].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 49977
- exact match
- identifiers.org/ncbigene/83987
- genomic end
- 46413564
- genomic start
- 46410329
- cytogenetic location
- 19q13.32
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical relevance
- References
- Further reading
- External links
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
== Function ==
Connections
Q180686
Entity
human chromosome 19
Entity
Ensembl genome database project
Entity
protein
Entity
Wikidata
Entity
gene
Entity
chromosome
Entity
public domain
Entity
digital object identifier
Entity
apoptotic process
Entity
human genome
Entity
Q229883
Entity
base pair
Entity
locus
Entity
gene expression
Entity
Online Mendelian Inheritance in Man
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United States National Library of Medicine
Entity
Protein Data Bank
Entity
tumor protein p53
Protein
Entrez
Entity