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- Table of Contents
Facts about Protein C8orf37.
| Human | |
|---|---|
| Gene Name: | C8orf37 |
| Uniprot: | Q96NL8 |
| Entrez: | 157657 |

| Belongs to: |
|---|
| No superfamily |

chromosome 8 open reading frame 37; CORD16; RP64; smalltalk
Mass (kDA):
23.381 kDA

| Human | |
|---|---|
| Location: | 8q22.1 |
| Sequence: | 8; NC_000008.11 (95244913..95269201, complement) |
Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).
Cytoplasm. Photoreceptor inner segment. In the retina, located at the base of the primary cilium (PubMed:22177090). Expressed throughout photoreceptors cell body including the basal body, inner segment and synaptic terminus, but not in the outer segment.





PMID: 22177090 by Estrada-Cuzcano A., et al. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
PMID: 26854863 by Khan A.O., et al. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.