| Pantothenate Kinase 3 | |
|---|---|
| Gene Symbol | PANK3 |
| Full Name | Pantothenate Kinase 3 |
| Chromosome | 5q31.1 |
| NCBI Gene ID | 79646 |
| OMIM | 607282 |
| Ensembl ID | ENSG00000142082 |
| UniProt ID | Q9H8M4 |
| Associated Diseases | Metabolic Disorders |
PANK3 (Pantothenate Kinase 3) is a gene located on chromosome 5q31.1 that encodes one of four human pantothenate kinase isoforms. While PANK2 is the major brain isoform, PANK3 is primarily expressed in metabolic tissues including heart, skeletal muscle, kidney, and liver. The enzyme catalyzes the first step in coenzyme A (CoA) biosynthesis, phosphorylating pantothenate (vitamin B5) to generate 4'-phosphopantothenate. This reaction initiates the essential CoA biosynthetic pathway, as CoA serves as a critical cofactor for over 100 enzymatic reactions involved in energy metabolism, fatty acid synthesis, and amino acid catabolism.
Unlike PANK2 which is mitochondrial and brain-enriched, PANK3 contributes to systemic CoA homeostasis in peripheral tissues. Though less studied than PANK2 in the context of neurodegeneration, proper PANK3 function is essential for cellular CoA levels in tissues where it is highly expressed.
PANK3 encodes pantothenate kinase 3, one of four human pantothenate kinases that catalyze the first step in coenzyme A (CoA) biosynthesis. While PANK2 is the major isoform in the brain, PANK3 is expressed in various tissues with highest levels in the heart and skeletal muscle. The enzyme phosphorylates pantothenate (vitamin B5) to generate 4'-phosphopantothenate, initiating the CoA biosynthetic pathway. CoA serves as an essential cofactor for over 100 enzymatic reactions.
Highest expression in heart and skeletal muscle, with moderate expression in kidney and liver. Lower expression in brain compared to PANK2.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Metabolic Disorders | Various | Autosomal Recessive | Impaired CoA biosynthesis |