Gene: MIR103B2

Alternate names for this Gene: MIR103-2-AS|MIR103-2AS|MIRN103-2AS|hsa-mir-103-2-as

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: microRNA 103b-2

Type of Gene: ncRNA

Gene: PANK2

Alternate names for this Gene: C20orf48|HARP|HSS|NBIA1|PKAN

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: pantothenate kinase 2

Type of Gene: protein-coding

rs137852959 in MIR103B2;PANK2 gene and Hallervorden-Spatz Syndrome PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 15659606 2005 Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

PMID 16450344 2006 Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.

PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 16272150 2006 The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 22221393 2012 Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.