PEX11A
peroxisomal biogenesis factor 11 alpha
Summary
This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8179078 | 15:90,225,743 | T/C | upstream gene variant | — |
| rs776831302 | 15:90,226,613 | G/A | — | uncertain significance |
| rs373204311 | 15:90,226,629 | C/G | — | uncertain significance |
| rs2505560126 | 15:90,226,634 | G/T | — | uncertain significance |
| rs908509461 | 15:90,226,661 | T/C | — | likely benign |
| rs149109266 | 15:90,226,687 | A/G | — | uncertain significance |
| rs2505560327 | 15:90,226,694 | C/G | — | uncertain significance |
| rs369574386 | 15:90,226,739 | T/G | — | uncertain significance |
| rs777969811 | 15:90,226,741 | T/G | — | uncertain significance |
| rs778222530 | 15:90,226,838 | C/T | — | uncertain significance |
| rs763953814 | 15:90,226,839 | C/G | — | likely benign |
| rs562275577 | 15:90,226,872 | T/A | — | likely benign |
| rs1964631429 | 15:90,226,879 | T/A | — | uncertain significance |
| rs146934539 | 15:90,226,894 | C/G | — | uncertain significance |
| rs141774806 | 15:90,226,915 | A/C | — | uncertain significance |
| rs758576672 | 15:90,226,937 | G/C | — | uncertain significance |
| rs749264393 | 15:90,226,958 | G/C | — | conflicting classifications of pathogenicity |
| rs368037375 | 15:90,226,993 | C/T | — | uncertain significance |
| rs768041150 | 15:90,227,030 | C/T | — | uncertain significance |
| rs149426857 | 15:90,227,105 | G/A | — | uncertain significance |
| rs1333241002 | 15:90,227,115 | G/T | — | uncertain significance |
| rs148173226 | 15:90,227,128 | A/G | — | uncertain significance |
| rs778319962 | 15:90,227,146 | T/C | — | uncertain significance |
| rs756052393 | 15:90,229,667 | C/T | — | uncertain significance |
| rs1485468644 | 15:90,229,682 | C/T | — | uncertain significance |
| rs199964776 | 15:90,229,706 | A/G | — | uncertain significance |
| rs994812464 | 15:90,229,720 | T/A | — | uncertain significance |
| rs564276679 | 15:90,229,758 | T/C | — | uncertain significance |
| rs1282406720 | 15:90,233,839 | T/G | — | uncertain significance |
| rs373673442 | 15:90,233,847 | C/T | — | uncertain significance |
| rs1207628411 | 15:90,233,857 | C/A | — | uncertain significance |
| rs192301780 | 15:90,234,598 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.