IMPG2 gene

interphotoreceptor matrix proteoglycan 2

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

From NCBI Gene:

The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]

From UniProt:

Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 56
  • Macular dystrophy, vitelliform, 5

From UniProt:

Macular dystrophy, vitelliform, 5 (VMD5): 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. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity. [MIM:616152]

Retinitis pigmentosa 56 (RP56): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:613581]

Cytogenetic Location: 3q12.2-q12.3, which is the long (q) arm of chromosome 3 between positions 12.2 and 12.3

Molecular Location: base pairs 101,222,546 to 101,320,575 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q12.2-q12.3, which is the long (q) arm of chromosome 3 between positions 12.2 and 12.3
  • IPM200
  • RP56
  • SPACRCAN
  • VMD5