Rabbit anti-Human PANK2 Polyclonal Antibody

Uniprot Id

Q9BZ23

Target Species

Human

Target Name

PANK2

Target Full Name

Pantothenate kinase 2, mitochondrial

Target Function

Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC).; Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.

Target Involvement

Neurodegeneration with brain iron accumulation 1 (NBIA1); Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP)

Target Subcellular Location

[Isoform 1]: Mitochondrion. Mitochondrion intermembrane space. Nucleus.; [Isoform 2]: Cytoplasm.; [Isoform 3]: Cytoplasm.; [Isoform 4]: Cytoplasm.

Target Protein Families

Type II pantothenate kinase family

Target Tissue Specificity

Expressed in the brain (at protein level). Ubiquitous. Highly expressed in the testis. Expressed in the umbilical vein endothelial cells (HUVEC).

Target Synonyms

4933409I19Rik; AI642621; C20orf48; Hallervorden Spatz syndrome; HARP; hPANK2; HSS; MGC118448; MGC15053; mitochondrial; NBIA1; PANK2; PANK2_HUMAN; Pantothenate kinase 2 (Hallervorden Spatz syndrome); Pantothenate kinase 2; Pantothenate kinase 2 mitochondrial; Pantothenic acid kinase 2; PKAN; RP23 387C21.4

Target Background

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. 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 acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.