PANK2

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 ?
PKAN is caused by a mutation in the PANK2 gene, which encodes a critical protein that phosphorylates vitamin B5 (pantothenate), generating phosphopantothenate.
Mutation in the PANK2 gene (band 20p13) accounts for most inherited PKAN cases.
The locus of the causative gene is 20p12.3-13 and it codes for pantothenate kinase-2 (PANK2).
Brain magnetic resonance imaging (MRI) results were normal and there was no mutation in either DYT1 or PANK2 genes.
Pantothenate kinase-associated neurodegeneration (PKAN), account for up to 50% of cases, and are most commonly caused by autosomal recessive mutations in the PANK2 gene.
The ATP13A2, C19orf12, CP, FA2H, FTL, PANK2, and PLA2G6 genes were analyzed from blood sample using the polymerase chain reaction (PCR) and next-generation sequencing of both strands of the entire coding region and the highly conserved exon-intron splice junctions.
Diseases related to iron overload in the brain Disease Disease gene Clinical features Pantothenate kinase-associated PANK2 Childhood-onset dystonia neurodegeneration (PKAN) and spasticity Fatty acid FA2H Trouble speaking, gait hydroxylase-associated abnormalities, dystonia and neurodegeneration (FAHN) parkinsonism Neuroferritinopathy FTL Abnormal gait late in disease Too much iron These three genetic diseases belong to a small group of disorders marked by excess iron in the brain.
In recent years, several genetic causes have been identified, such as PANK2, PLA2G6, FA2H, ATP13A2, CP, and FTL [1].
In 2001, the causative gene of PKAN, PANK2, was first identified to be located on chromosome 20p13 [4].
It is an autosomal recessive disorder resulting from biallelic mutations in the PANK2 gene on chromosome 20p13 [1,2] for which there is only symptomatic treatment.
All patients with PANK2 mutations had the specific pattern of T2-WI globus pallidus central hyperintensity (Destruction and gliosis) with surrounding hypointensity (Iron deposition) known as the eye-of-the-tiger sign.
We could not do the mutational study of the gene PANK2, as it is not available in our country.