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]
Function:
IMPG2 (Interphotoreceptor matrix proteoglycan 2) is part of an extracellular complex occupying the interface between photoreceptors and the retinal pigment epithelium in the fundus of the eye. IMPG2 is part of an extracellular complex occupying the interface between photoreceptors and the retinal pigment epithelium in the fundus of the eye.
Subcellular Location:
Membrane; Single pass type I membrane protein
Tissue Specificity:
Expressed in the retina. Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones. IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina. Detected in the pineal gland.
Post-translational modifications:
Highly glycosylated (N- and O-linked carbohydrates).
DISEASE:
Retinitis pigmentosa 56 (RP56) [MIM:613581]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Maculopathy, IMPG2-related (MACLP-IMPG2) [MIM:613581]: A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 2 EGF-like domains.
Contains 2 SEA domains.
SWISS:
Q9BZV3
Gene ID:
50939
Database links:
Entrez Gene: 50939 Human
Entrez Gene: 224224 Mouse
Entrez Gene: 245919 Rat
Omim: 607056 Human
SwissProt: Q9BZV3 Human
SwissProt: Q80XH2 Mouse
SwissProt: P70628 Rat
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