Pantothenate kinase 2, mitochondrial is an
enzyme that in humans is encoded by the ''PANK2''
gene.
This gene encodes a protein belonging to the
pantothenate kinase
Pantothenate kinase (, PanK; CoaA) is the first enzyme in the Coenzyme A (CoA) biosynthetic pathway. It phosphorylates pantothenate (vitamin B5) to form 4'-phosphopantothenate at the expense of a molecule of adenosine triphosphate ( ATP). It is th ...
family and is the only member of that family to be expressed in
mitochondria
A mitochondrion (; ) is an organelle found in the Cell (biology), cells of most Eukaryotes, such as animals, plants and Fungus, fungi. Mitochondria have a double lipid bilayer, membrane structure and use aerobic respiration to generate adenosi ...
. Pantothenate kinase is a key
regulatory enzyme in the
biosynthesis
Biosynthesis is a multi-step, enzyme-catalyzed process where substrates are converted into more complex products in living organisms. In biosynthesis, simple compounds are modified, converted into other compounds, or joined to form macromolecules. ...
of
coenzyme A
Coenzyme A (CoA, SHCoA, CoASH) is a coenzyme, notable for its role in the synthesis and oxidation of fatty acids, and the oxidation of pyruvate in the citric acid cycle. All genomes sequenced to date encode enzymes that use coenzyme A as a subs ...
(CoA) in
bacteria and mammalian cells. It catalyzes the first
committed step
In enzymology, the committed step (also known as the ''first'' committed step) is an effectively irreversible enzymatic reaction that occurs at a branch point during the biosynthesis of some molecules.
As the name implies, after this step, the mol ...
in the universal
biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by
acyl CoA species. Mutations in this gene are associated with HARP syndrome and
Pantothenate kinase-associated neurodegeneration (PKAN). Alternative splicing, involving the use of alternate first
exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequen ...
s, results in multiple transcripts encoding different
isoforms.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Pantothenate Kinase-Associated Neurodegeneration
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