rs200218946
This variant is located in the ABHD2 gene.
▶ClinVar annotation
About ABHD2
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. [provided by RefSeq, Jan 2017]
View all ABHD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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