IMPDH1 Back

IMP (inosine monophosphate) dehydrogenase 1

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NCBI Description of 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.

Community Annotation of IMPDH1 Add / Edit IMPDH1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

IMPDH1 is highly significantly mutated in
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IMPDH1 is significantly mutated in
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IMPDH1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for IMPDH1