UGDH
UDP-glucose 6-dehydrogenase
Summary
The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200551526 | 4:39,501,808 | C/G | — | likely benign |
| rs764992651 | 4:39,501,809 | G/C | — | uncertain significance |
| rs146932231 | 4:39,501,825 | G/A | — | uncertain significance |
| rs2475047035 | 4:39,501,827 | G/A | — | uncertain significance |
| rs750080424 | 4:39,501,852 | C/T | — | uncertain significance |
| rs779324355 | 4:39,505,523 | T/C | — | likely pathogenic |
| rs1053767552 | 4:39,505,541 | C/T | — | likely pathogenic |
| rs201894374 | 4:39,505,545 | G/A | — | likely pathogenic |
| rs147122976 | 4:39,505,577 | T/C | — | uncertain significance |
| rs770456604 | 4:39,506,072 | C/A | — | likely pathogenic |
| rs113094436 | 4:39,506,123 | G/A | — | likely pathogenic |
| rs1578264574 | 4:39,506,928 | T/C | — | pathogenic |
| rs1745983376 | 4:39,506,945 | A/G | — | likely benign |
| rs1260191836 | 4:39,506,960 | A/C | — | likely pathogenic |
| rs775162839 | 4:39,507,325 | C/T | — | pathogenic |
| rs779173046 | 4:39,507,326 | G/A | — | uncertain significance |
| rs2475058989 | 4:39,507,348 | G/C | — | uncertain significance |
| rs1377344342 | 4:39,507,354 | A/G | — | likely benign |
| rs1578265048 | 4:39,507,359 | T/C | — | likely pathogenic |
| rs1578265068 | 4:39,507,368 | C/T | — | likely pathogenic |
| rs1578269200 | 4:39,511,380 | C/G | — | likely pathogenic |
| rs116145557 | 4:39,511,399 | C/T | — | likely benign |
| rs1186496501 | 4:39,511,427 | A/G | — | likely pathogenic |
| rs2109928147 | 4:39,511,457 | C/G | — | uncertain significance |
| rs1333993203 | 4:39,511,482 | T/C | — | uncertain significance |
| rs1578269761 | 4:39,511,985 | C/G | — | likely pathogenic |
| rs751260541 | 4:39,512,067 | C/A | — | uncertain significance |
| rs1305524531 | 4:39,512,108 | G/C | — | uncertain significance |
| rs756467468 | 4:39,512,113 | G/C | — | likely pathogenic |
| rs1381665298 | 4:39,512,283 | G/A | — | likely pathogenic |
| rs115137663 | 4:39,512,325 | G/A | — | likely benign |
| rs1578270476 | 4:39,512,372 | A/G | — | likely pathogenic |
| rs202045254 | 4:39,512,402 | C/T | — | uncertain significance |
| rs140504706 | 4:39,512,403 | G/A | — | uncertain significance |
| rs1420419492 | 4:39,512,435 | G/A | — | uncertain significance |
| rs757450293 | 4:39,512,441 | C/T | — | uncertain significance |
| rs779742282 | 4:39,512,442 | G/A | — | uncertain significance |
| rs2475071093 | 4:39,512,487 | G/C | — | uncertain significance |
| rs1578274054 | 4:39,515,723 | C/T | — | pathogenic |
| rs769243823 | 4:39,515,753 | A/C | — | pathogenic |
| rs199867239 | 4:39,515,754 | A/G | — | likely benign |
| rs200059198 | 4:39,515,774 | G/A | — | pathogenic |
| rs16995351 | 4:39,515,853 | T/C | intron variant | — |
| rs147584374 | 4:39,523,001 | C/A | — | likely benign |
| rs749975104 | 4:39,523,002 | G/A | — | pathogenic |
| rs1578282133 | 4:39,523,008 | A/G | — | likely pathogenic |
| rs779814943 | 4:39,523,028 | A/C | — | likely benign |
| rs1306655122 | 4:39,523,063 | C/T | — | likely pathogenic |
| rs369608407 | 4:39,523,092 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.