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- Table of Contents
Facts about Coiled-coil domain-containing protein 8.
Required for localization of CUL7 to the centrosome (PubMed:24793695). .
Human | |
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Gene Name: | CCDC8 |
Uniprot: | Q9H0W5 |
Entrez: | 83987 |
Belongs to: |
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No superfamily |
coiled-coil domain containing 8; coiled-coil domain-containing protein 8; DKFZp564K0322
Mass (kDA):
59.374 kDA
Human | |
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Location: | 19q13.32 |
Sequence: | 19; NC_000019.10 (46410329..46413564, complement) |
Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver.
Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
PMID: 21737058 by Hanson D., et al. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth.
PMID: 23018678 by Hanson D., et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.