Gene: MIR103A2
Alternate names for this Gene: MIR103-2|MIRN103-2|mir-103a-2
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 103a-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
rs137852968 in
MIR103A2;PANK2 gene and
Hallervorden-Spatz Syndrome
PMID 12058097 2002 HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
PMID 28821231 2017 Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
PMID 16240131 2005 A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.
PMID 16437574 2006 Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.