Gene: PLEKHM1

Alternate names for this Gene: AP162|B2|OPTA3|OPTB6

Gene Summary: The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: pleckstrin homology and RUN domain containing M1

Type of Gene: protein-coding

rs144733372 in PLEKHM1 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs11012 in PLEKHM1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs144733372 in PLEKHM1 gene and Major Depressive Disorder PMID 29559929 2018 Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder.

rs1879586 in PLEKHM1 gene and Ovarian Serous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

rs11012 in PLEKHM1 gene and Parkinson Disease PMID 20070850 2010 Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

PMID 19915575 2009 Genome-wide association study reveals genetic risk underlying Parkinson's disease.

PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

PMID 21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

rs144733372 in PLEKHM1 gene and Unipolar Depression PMID 29559929 2018 Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder.

rs146746174 in PLEKHM1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs17631303 in PLEKHM1 gene and ovarian neoplasm PMID 23544013 2013 In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38).

PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

PMID 23544013 2013 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

rs144733372 in PLEKHM1 gene and response to SSRI PMID 29559929 2018 Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder.