PANK4

Chr 1

pantothenate kinase 4 (inactive)

Also known as: CTRCT49

NCBI Gene: 55229 ENSG00000157881 UniProt: Q9NVE7

This gene encodes a phosphatase that preferentially hydrolyzes 4'-phosphopantetheine and its oxidatively damaged forms, helping to prevent damage in the coenzyme A biosynthesis pathway and regulate intracellular CoA levels. Mutations cause autosomal dominant cataract 49. The gene is highly constrained against loss-of-function mutations (pLI 0.98), suggesting that heterozygous variants causing disease may be particularly significant.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCataract 49

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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