IMPG1 gene

interphotoreceptor matrix proteoglycan 1

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

From NCBI Gene:

This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

From UniProt:

May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix.

From NCBI Gene:

  • Macular dystrophy, vitelliform, 4

From UniProt:

Macular dystrophy, vitelliform, 4 (VMD4): A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity. [MIM:616151]

Cytogenetic Location: 6q14.2-q15, which is the long (q) arm of chromosome 6 between positions 14.2 and 15

Molecular Location: base pairs 75,921,114 to 76,072,678 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q14.2-q15, which is the long (q) arm of chromosome 6 between positions 14.2 and 15
  • GP147
  • IPM150
  • SPACR
  • VMD4