PANK4 Chromosome 1
Pantothenate kinase 4 (inactive)
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What This Gene Does
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]
Gene Info
Gene Group
Pantothenate kinase family
Locus Type
gene with protein product
Location
1p36.32
Ensembl
ENSG00000157881
Associated Conditions (1)
Cataract 49
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS575200084 | Health Risk | Pathogenic | Cataract 49, Cataract 49 |