Gene: PINK1

Alternate names for this Gene: BRPK|PARK6

Gene Summary: This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.12

Description of this Gene: PTEN induced kinase 1

Type of Gene: protein-coding

Gene: MIR6084

Alternate names for this Gene: hsa-mir-6084

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: 1

Location in Chromosome : 1p36.12

Description of this Gene: microRNA 6084

Type of Gene: ncRNA

rs775809722 in PINK1;MIR6084 gene and Parkinson Disease 6, Autosomal Recessive Early-Onset PMID 15596610 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

PMID 16482571 2006 PINK1 mutations in sporadic early-onset Parkinson's disease.

PMID 15955953 2005 Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

PMID 16257123 2006 Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 16401616 2006 Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

PMID 16009891 2005 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

PMID 15349860 2004 PINK1 mutations are associated with sporadic early-onset parkinsonism.

PMID 16207731 2005 Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

PMID 15087508 2004 Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

PMID 17030667 2006 T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

PMID 18286320 2008 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 16632486 2006 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

PMID 24784582 2014 Ubiquitin is phosphorylated by PINK1 to activate parkin.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

PMID 15505171 2004 PINK1 (PARK6) associated Parkinson disease in Ireland.

PMID 15349870 2004 Novel PINK1 mutations in early-onset parkinsonism.

PMID 16207217 2005 Analysis of PINK1 in Asian patients with familial parkinsonism.

PMID 24652937 2014 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.