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

rs138302371 in PINK1 gene and Parkinson Disease 6, Autosomal Recessive Early-Onset PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

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

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

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

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

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

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

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

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

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

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

PMID 15596610 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

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

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

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

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

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

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

PMID 20558144 2010 Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.

PMID 21996382 2012 Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.