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 ?
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.
1) This indicates that the detection of this radiological sign does not support the approach of screening for mutations in the PANK2 gene exclusively, and mutations in the C19orf12 gene might be sought based on the clinical presentation.
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.
Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.
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.
3 spikule olmus hucre normal) CK yuksekligi Mc Leod sendromu, koreakantositoz Karaciger enzim yuksekligi McLeod sendromu, koreakantositoz; Wilson hastaligini disla Spesifik antikorlar kullanarak McLeod sendromu Kell eritrosit antijen fenotipi XK geni McLeod sendromu VPS13A geni Koreakantositoz JPH3 geni HHB-2 PANK2 geni PKIN CK: Kreatin kinaz; HHB-2: Huntington hastaligi benzeri-2; JPH3:junktofilin 3 geni; PKIN: Pantotenat kinaz ile iliskili norodejenerasyon
There are few PANK2 negative Eye-of-the-Tiger sign cases being reported.