Gene Symbol | IMPG2 |
Entrez Gene ID | 50939 |
Full Name | interphotoreceptor matrix proteoglycan 2 |
Synonyms | IPM200,RP56,SPACRCAN,VMD5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 56, 613581 (3); Macular dystrophy, vitelliform, 5, 616152 (3) |