PXYLP1
2-phosphoxylose phosphatase 1
Summary
Enables phosphatase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process and positive regulation of heparan sulfate proteoglycan biosynthetic process. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16851191 | 3:140,962,198 | C/T | regulatory region variant | — |
| rs374587080 | 3:140,979,061 | C/T | — | uncertain significance |
| rs16851254 | 3:140,979,411 | A/C | — | — |
| rs59752258 | 3:140,987,325 | G/A | regulatory region variant | — |
| rs4683591 | 3:140,992,260 | G/A | intron variant | — |
| rs139938375 | 3:140,997,262 | C/T | — | uncertain significance |
| rs1040143705 | 3:140,998,267 | C/T | — | uncertain significance |
| rs200014913 | 3:140,998,292 | A/G | — | uncertain significance |
| rs775047388 | 3:140,998,301 | C/T | — | uncertain significance |
| rs1035570616 | 3:140,998,304 | A/G | — | uncertain significance |
| rs754179505 | 3:141,006,223 | G/A | — | uncertain significance |
| rs1567558 | 3:141,008,123 | A/G | intron variant | — |
| rs2473137409 | 3:141,011,145 | A/T | — | uncertain significance |
| rs376085639 | 3:141,011,193 | G/A | — | likely benign |
| rs372638475 | 3:141,011,304 | C/T | — | uncertain significance |
| rs753267121 | 3:141,011,317 | C/T | — | uncertain significance |
| rs981426895 | 3:141,011,320 | T/C | — | uncertain significance |
| rs2473139624 | 3:141,011,331 | G/A | — | uncertain significance |
| rs146787521 | 3:141,011,383 | G/A | — | uncertain significance |
| rs140468634 | 3:141,011,398 | G/A | — | uncertain significance |
| rs374675098 | 3:141,011,457 | C/T | — | uncertain significance |
| rs1266270324 | 3:141,011,496 | A/G | — | uncertain significance |
| rs114644481 | 3:141,011,754 | C/A | — | uncertain significance |
| rs142918405 | 3:141,011,898 | A/G | — | uncertain significance |
| rs754283669 | 3:141,011,919 | C/T | — | uncertain significance |
| rs757645831 | 3:141,011,920 | A/T | — | uncertain significance |
| rs114061733 | 3:141,011,926 | G/T | — | uncertain significance |
| rs747628473 | 3:141,011,947 | C/T | — | uncertain significance |
| rs746543119 | 3:141,011,964 | C/T | — | uncertain significance |
| rs774417581 | 3:141,011,965 | G/A | — | uncertain significance |
| rs373057932 | 3:141,012,038 | A/T | — | uncertain significance |
| rs2473147073 | 3:141,012,039 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.