C1QTNF5 gene

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 109, GRCh38.p12) (NCBI)

• CTRP5
• MFRP