GNPDA2
LOCUS ID132789
GENE_SYMBOLGNPDA2
GENE NAMEglucosamine-6-phosph
SYNONYMNSGNP2,SB52
CHROMOSOME4
HOMOLOGENE ID12381
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Interestingly, the novel SNP rs1996023 is located at protein coding gene GNPDA2 (ccFDR?=?1.28E-02), which has been reported to influence the risk of T2D and CO through central nervous system. 30816286