IMDH1 Rabbit Polyclonal Antibody, 100ul Pasteur Pipets Several transcript variants with different

Several transcript variants with different 5' UTR

subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males

Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20

The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex

hydrolyzing O-glycosyl compounds and chitinase activity

IMDH1 Rabbit Polyclonal Antibody, 100ul Pasteur Pipets Several transcript variants with differentThe 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.