Entity Details

Primary name IMPG1
Entity type gene
Source Source Link

Details

PrimaryID3617
RefseqGeneNG_041812
SymbolIMPG1
Nameinterphotoreceptor matrix proteoglycan 1
Chromosome6
Location6q14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIMPG1_HUMAN

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005201 extracellular matrix structural constituent
GO:0005540 hyaluronic acid binding
GO:0005576 extracellular region
GO:0007601 visual perception
GO:0008201 heparin binding
GO:0031012 extracellular matrix
GO:0033165 interphotoreceptor matrix
GO:0035374 chondroitin sulfate binding

Diseases

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Disease IDSourceNameDescription
616151 OMIMMacular 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
IMPG1NPM1BioGRID23402259 details