GNPDA2

Chr 4

glucosamine-6-phosphate deaminase 2

Also known as: GNP2, SB52

NCBI Gene: 132789 ENSG00000163281 UniProt: Q8TDQ7 OMIM: 613222

The protein catalyzes the reversible conversion of glucosamine-6-phosphate to fructose-6-phosphate and ammonium, regulating UDP-N-acetylglucosamine biosynthesis through the hexosamine pathway and influencing hyaluronan synthesis during tissue remodeling. GNPDA2 variants have been associated with body mass index regulation and obesity susceptibility, though the gene shows low constraint to loss-of-function variation. The inheritance pattern and specific neurological phenotypes associated with pathogenic variants in this gene are not well-established in the current literature.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.95

LOEUF

Multiple*

Mechanism· predicted