Gene: ABHD2

Alternate names for this Gene: HS1-2|LABH2|PHPS1-2

Gene Summary: This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: abhydrolase domain containing 2, acylglycerol lipase

Type of Gene: protein-coding

rs4932480 in ABHD2 gene and Age related macular degeneration PMID 28813576 2017 Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

rs2283436 in ABHD2 gene and Cerebrovascular accident PMID 22384361 2011 Genome-wide association analysis of ischemic stroke in young adults.