CAPN5 gene

calpain 5

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

From NCBI Gene:

Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]

From NCBI Gene:

  • Vitreoretinopathy, neovascular inflammatory

From UniProt:

Vitreoretinopathy, neovascular inflammatory (VRNI): An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis. [MIM:193235]

Cytogenetic Location: 11q14, which is the long (q) arm of chromosome 11 at position 14

Molecular Location: base pairs 77,066,945 to 77,126,155 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q14, which is the long (q) arm of chromosome 11 at position 14
  • ADNIV
  • HTRA3
  • nCL-3
  • VRNI