rs144498273
This variant is located in the IMPDH1 gene.
▶ClinVar annotation
Retinitis pigmentosa; not provided; Leber congenital amaurosis 11; Retinal dystrophy
View on ClinVar →About IMPDH1
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
View all IMPDH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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