Gene: ACBD4

Alternate names for this Gene: HMFT0700

Gene Summary: This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: acyl-CoA binding domain containing 4

Type of Gene: protein-coding

Gene: PLCD3

Alternate names for this Gene: PLC-delta-3

Gene Summary: This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: phospholipase C delta 3

Type of Gene: protein-coding

rs12946454 in ACBD4;PLCD3 gene and Blood Pressure PMID 21378095 2011 Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.

rs12946454 in ACBD4;PLCD3 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs12946454 in ACBD4;PLCD3 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 19430483 2009 Genome-wide association study identifies eight loci associated with blood pressure.

rs12946454 in ACBD4;PLCD3 gene and Systolic blood pressure measurement PMID 19430483 2009 Genome-wide association study identifies eight loci associated with blood pressure.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.