PANK2

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PANK2

A gene on chromosome 20p13 that encodes a member of the pantothenate kinase family, which are key enzymes in coenzyme A (CoA) synthesis. PANK2 catalyses the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition; is the only member to be expressed in mitochondria. 

Molecular pathology
PANK2 mutations are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), also known as Hallervorden-Spatz syndrome.
References in periodicals archive ?
It will evaluate the safety and efficacy of RE-024 in 82 patients with PKAN aged 6 to 65 years.
Additionally, the PKAN-ADL is a novel, PKAN-specific, patient-reported outcome scale measuring motor abilities to function in daily living for patients with PKAN.
According to the company, the orphan designation will provide RE-024 with seven years of marketing exclusivity if approved by the FDA for the treatment of PKAN.
PKAN is reportedly a rare and lethal autosomal recessive neurodegenerative disorder believed to affect approximately one to three persons per million worldwide, with no approved treatment currently available.