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- Table of Contents
Facts about Coiled-coil domain-containing protein 47.
Human | |
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Gene Name: | CCDC47 |
Uniprot: | Q96A33 |
Entrez: | 57003 |
Belongs to: |
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No superfamily |
coiled-coil domain containing 47; coiled-coil domain-containing protein 47; GK001; MSTP041; PSEC0077
Mass (kDA):
55.874 kDA
Human | |
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Location: | 17q23.3 |
Sequence: | 17; NC_000017.11 (63745255..63773597, complement) |
Endoplasmic reticulum membrane. Rough endoplasmic reticulum membrane.
PMID: 25009997 by Yamamoto S., et al. Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity.
PMID: 30401460 by Morimoto M., et al. Bi-allelic CCDC47 variants cause a disorder characterized by woolly hair, liver dysfunction, dysmorphic features, and global developmental delay.