rs117574754
This variant is located in the IMPG2 gene.
▶ClinVar annotation
About IMPG2
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]
View all IMPG2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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