Aliases for ISYNA1 Gene
External Ids for ISYNA1 Gene
Previous GeneCards Identifiers for ISYNA1 Gene
This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]
GeneCards Summary for ISYNA1 Gene
ISYNA1 (Inositol-3-Phosphate Synthase 1) is a Protein Coding gene. Diseases associated with ISYNA1 include Nemaline Myopathy 1 and Granulomatous Disease, Chronic, Autosomal Recessive, 1. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include inositol-3-phosphate synthase activity.
UniProtKB/Swiss-Prot Summary for ISYNA1 Gene
Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds.