This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Centrosomal protein of 78 kDa.
.
Human | |
---|---|
Gene Name: | CEP78 |
Uniprot: | Q5JTW2 |
Entrez: | 84131 |
Belongs to: |
---|
CEP78 family |
C9orf81; centrosomal protein 78kDa; centrosomal protein of 78 kDa; Cep78; chromosome 9 open reading frame 81; FLJ12643; FLJ52093; IP63; MGC135040
Mass (kDA):
76.396 kDA
Human | |
---|---|
Location: | 9q21.2 |
Sequence: | 9; NC_000009.12 (78236075..78279690) |
Widely expressed (PubMed:27588451, PubMed:27588452). Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level) (PubMed:27588452).
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Mainly localizes at the centriolar wall, but also found in the pericentriolar material (PubMed:27246242). Expressed in photoreceptor inner segment (PubMed:27588452).
PMID: 27588451 by Nikopoulos K., et al. Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defects.
PMID: 27588452 by Namburi P., et al. Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss.