Gene Symbol | C1QTNF5 |
Entrez Gene ID | 114902 |
Full Name | C1q and TNF related 5 |
Synonyms | CTRP5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]. |
Disorder MIM: | |
Disorder Html: | Retinal degeneration, late-onset, autosomal dominant, 605670 (3) |