GNPDA2
glucosamine-6-phosphate deaminase 2
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]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2545526772 | 4:44,705,126 | G/A | — | uncertain significance |
| rs757201796 | 4:44,709,838 | G/A | — | uncertain significance |
| rs1252929452 | 4:44,709,918 | T/G | — | uncertain significance |
| rs749581413 | 4:44,713,089 | A/T | — | uncertain significance |
| rs1267927997 | 4:44,713,095 | T/C | — | uncertain significance |
| rs184490947 | 4:44,716,669 | A/C | intron variant | — |
| rs374535255 | 4:44,719,215 | G/A | — | likely benign |
| rs912969273 | 4:44,719,304 | T/C | — | uncertain significance |
| rs1717444296 | 4:44,720,374 | G/A | — | uncertain significance |
| rs141733877 | 4:44,724,129 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.