PANK1

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PANK1

A gene on chromosome 10q23.31 that encodes a member of the pantothenate kinase family, which are key enzymes in coenzyme A (CoA) synthesis. PANK1 catalyses the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition.
References in periodicals archive ?
Pantothenate Kinase Associated Neurodegeneration (PKAN)
Future management strategies may involve direct delivery of phosphorylated pantothenate to the cells, bypassing pantothenate kinase. [12]
The normal product of PANK2 is a pantothenate kinase which is essential in coenzyme A (CoA) biosynthesis and catalyzes the phosphorylation of pantothenate (vitamin B5) to phosphopantothenic acid (PPA).
PANK2 mutations are thought to result in deficiency (complete or partial) of pantothenate kinase 2 and accumulation of cysteine-containing cytotoxic substrates [9].
Since pantothenate kinase 2 is the first and rate-limiting enzyme in the coenzyme A (CoA) biosynthetic pathway, this truncation may lead to a loss of function and reduction of phosphopantothenate, resulting in both CoA deficiency and accumulation of cysteine-containing molecules [4].
Ohmori et al., "Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene, " Journal of the Neurological Sciences, vol.
The other group with predominant deep gray matter involvement are two cases of Wilson's disease and two cases of Pantothenate Kinase deficiency.
Two cases of Pantothenate Kinase deficiency (Hallervorden-Spatz disease) were noted showing T2WI/FLAIR hyperintensity with surrounding hypointensity in bilateral globus pallidus noted.
(1) The sign is considered as the distinctive radiologic feature of Neurodegeneration with Brain Iron Accumulation (NBIA) type 1, also known as Pantothenate Kinase Associated Neurodegeneration (PKAN).
The sign is considered the distinctive radiologic feature of Neurodegeneration with Brain Iron Accumulation (NBIA) type 1, also known as pantothenate kinase associated neurodegeneration (PKAN).
Hallervorden Spatz disease also known as Pantothenate Kinase 2 associated neurodegeneration (PKAN), is a rare autosomal recessive condition [1].