PANK4
pantothenate kinase 4 (inactive)
Summary
This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs528581753 | 1:2,440,403 | G/A | — | likely benign |
| rs1643615389 | 1:2,440,452 | T/A | — | uncertain significance |
| rs535092413 | 1:2,441,308 | C/T | — | uncertain significance |
| rs375430738 | 1:2,441,500 | C/T | — | uncertain significance |
| rs975838128 | 1:2,441,517 | G/A | — | uncertain significance |
| rs2523052671 | 1:2,442,125 | C/G | — | uncertain significance |
| rs760144616 | 1:2,442,134 | G/C | — | uncertain significance |
| rs2523052763 | 1:2,442,142 | C/T | — | uncertain significance |
| rs752561565 | 1:2,442,206 | A/C | — | uncertain significance |
| rs2100773741 | 1:2,444,352 | C/T | — | uncertain significance |
| rs2523065456 | 1:2,444,408 | C/T | — | uncertain significance |
| rs7535528 | 1:2,444,414 | A/G | — | benign |
| rs372681543 | 1:2,444,415 | C/A | — | uncertain significance |
| rs141622901 | 1:2,444,426 | C/T | — | uncertain significance |
| rs760121269 | 1:2,444,427 | G/A | — | uncertain significance |
| rs370557254 | 1:2,444,457 | C/T | — | uncertain significance |
| rs1643720208 | 1:2,445,811 | G/A | — | uncertain significance |
| rs750306732 | 1:2,447,057 | C/T | — | uncertain significance |
| rs143863716 | 1:2,447,082 | G/A | — | likely benign |
| rs150307735 | 1:2,447,091 | C/T | — | likely benign |
| rs374992562 | 1:2,449,613 | C/T | — | uncertain significance |
| rs150859029 | 1:2,449,619 | C/T | — | uncertain significance |
| rs750603487 | 1:2,449,628 | G/A | — | uncertain significance |
| rs142638862 | 1:2,449,629 | G/T | — | uncertain significance |
| rs150093784 | 1:2,449,653 | T/A | — | uncertain significance |
| rs764900393 | 1:2,450,664 | C/T | — | uncertain significance |
| rs199607692 | 1:2,451,257 | G/C | — | uncertain significance |
| rs34724650 | 1:2,451,298 | G/A | — | likely benign |
| rs987291947 | 1:2,451,347 | T/C | — | uncertain significance |
| rs1292944778 | 1:2,451,380 | A/G | — | uncertain significance |
| rs575200084 | 1:2,451,906 | C/T | — | pathogenic |
| rs138140703 | 1:2,452,188 | T/C | — | uncertain significance |
| rs1643868920 | 1:2,452,278 | G/T | — | uncertain significance |
| rs775954690 | 1:2,452,296 | C/T | — | uncertain significance |
| rs1197667934 | 1:2,452,547 | G/A | — | uncertain significance |
| rs2985862 | 1:2,452,569 | T/C | — | benign |
| rs1643872095 | 1:2,452,618 | G/C | — | uncertain significance |
| rs761684792 | 1:2,452,666 | G/A | — | uncertain significance |
| rs745365426 | 1:2,452,748 | C/G | — | uncertain significance |
| rs140795573 | 1:2,452,750 | G/A | — | uncertain significance |
| rs12073504 | 1:2,452,979 | C/G | intron variant | — |
| rs768577935 | 1:2,453,161 | C/A | — | uncertain significance |
| rs760875892 | 1:2,458,007 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.