UGT8
UDP glycosyltransferase 8
Summary
The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11098259 | 4:115,519,825 | G/A | regulatory region variant | — |
| rs11098260 | 4:115,519,826 | A/C | — | — |
| rs12499938 | 4:115,519,840 | A/G | regulatory region variant | — |
| rs35182026 | 4:115,538,142 | C/T | intron variant | — |
| rs150419642 | 4:115,544,054 | A/G | — | likely benign |
| rs977238511 | 4:115,544,089 | C/T | — | likely benign |
| rs145205528 | 4:115,544,112 | G/A | — | uncertain significance |
| rs149131940 | 4:115,544,164 | C/T | — | uncertain significance |
| rs200875294 | 4:115,544,175 | G/C | — | uncertain significance |
| rs2476340611 | 4:115,544,181 | G/T | — | uncertain significance |
| rs2476340812 | 4:115,544,214 | A/G | — | uncertain significance |
| rs137983750 | 4:115,544,355 | C/G | — | uncertain significance |
| rs1731953446 | 4:115,544,401 | C/A | — | uncertain significance |
| rs928205856 | 4:115,544,432 | T/G | — | uncertain significance |
| rs111563693 | 4:115,544,490 | G/A | — | likely benign |
| rs754514949 | 4:115,544,619 | A/G | — | uncertain significance |
| rs769419385 | 4:115,544,637 | C/T | — | uncertain significance |
| rs1040617527 | 4:115,544,651 | A/G | — | likely benign |
| rs147467972 | 4:115,544,654 | G/T | — | benign |
| rs4148254 | 4:115,544,713 | C/T | missense variant | — |
| rs1731990045 | 4:115,544,740 | A/T | — | uncertain significance |
| rs4148255 | 4:115,544,777 | A/G | synonymous variant | — |
| rs199775914 | 4:115,544,847 | C/T | — | uncertain significance |
| rs13115816 | 4:115,561,873 | A/G | intron variant | — |
| rs2476463051 | 4:115,585,241 | G/T | — | uncertain significance |
| rs1445853739 | 4:115,586,875 | T/C | — | likely benign |
| rs6857337 | 4:115,588,961 | T/G | — | — |
| rs769980791 | 4:115,589,285 | A/G | — | uncertain significance |
| rs759111551 | 4:115,589,300 | A/G | — | uncertain significance |
| rs1297850638 | 4:115,589,423 | C/T | — | uncertain significance |
| rs145525328 | 4:115,589,440 | G/A | — | likely benign |
| rs771664388 | 4:115,589,458 | C/T | — | likely benign |
| rs775263216 | 4:115,589,459 | A/T | — | uncertain significance |
| rs371750245 | 4:115,597,153 | C/G | — | uncertain significance |
| rs566522909 | 4:115,597,155 | A/G | — | likely benign |
| rs149080130 | 4:115,597,182 | A/G | — | conflicting classifications of pathogenicity |
| rs774435490 | 4:115,597,199 | C/T | — | uncertain significance |
| rs577333010 | 4:115,597,298 | T/G | — | uncertain significance |
| rs369142444 | 4:115,597,361 | G/A | — | uncertain significance |
| rs111805017 | 4:115,597,419 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.