NPL
N-acetylneuraminate pyruvate lyase
Summary
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143714082 | 1:182,761,047 | G/A | regulatory region variant | — |
| rs1224285641 | 1:182,763,541 | T/C | — | uncertain significance |
| rs12142654 | 1:182,763,605 | A/T | intron variant | — |
| rs76927013 | 1:182,765,885 | C/T | intron variant | — |
| rs73065363 | 1:182,771,161 | T/C | regulatory region variant | — |
| rs193141545 | 1:182,772,897 | A/G | — | likely benign |
| rs1666922411 | 1:182,772,901 | T/G | — | uncertain significance |
| rs776456114 | 1:182,775,302 | C/T | — | likely benign |
| rs16859679 | 1:182,775,637 | C/T | regulatory region variant | — |
| rs141892236 | 1:182,781,313 | G/A | — | likely benign |
| rs74844585 | 1:182,781,838 | C/T | intron variant | — |
| rs139205081 | 1:182,783,967 | C/T | — | uncertain significance |
| rs2275172 | 1:182,783,983 | A/G | — | benign |
| rs747058839 | 1:182,785,884 | G/A | — | uncertain significance |
| rs146355388 | 1:182,785,920 | C/A | missense variant | — |
| rs775839548 | 1:182,787,679 | G/A | — | uncertain significance |
| rs766018033 | 1:182,787,711 | A/G | — | uncertain significance |
| rs2526237540 | 1:182,787,713 | G/T | — | uncertain significance |
| rs764240568 | 1:182,787,769 | A/G | — | uncertain significance |
| rs58343016 | 1:182,787,797 | G/A | — | benign |
| rs147627214 | 1:182,787,816 | G/A | — | uncertain significance |
| rs765709899 | 1:182,791,264 | T/G | — | uncertain significance |
| rs2526251815 | 1:182,791,294 | C/T | — | uncertain significance |
| rs115885941 | 1:182,791,341 | G/A | — | benign |
| rs78799057 | 1:182,794,123 | G/A | intron variant | — |
| rs2526277183 | 1:182,797,889 | T/A | — | uncertain significance |
| rs567491394 | 1:182,797,912 | A/G | — | uncertain significance |
| rs1667715813 | 1:182,798,751 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.