C1QTNF5 gene

C1q and tumor necrosis factor related protein 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Late-onset retinal degeneration

From UniProt:

Late-onset retinal degeneration (LORD): Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. [MIM:605670]

Cytogenetic Location: 11q23.3, which is the long (q) arm of chromosome 11 at position 23.3

Molecular Location: base pairs 119,338,934 to 119,346,673 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q23.3, which is the long (q) arm of chromosome 11 at position 23.3