ACAN Summary

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

ACAN Details

Gene Symbol : ACAN

Gene Name : Aggrecan

Chromosome : CHR 15: 888,034,41-888,753,53

Locus : 15q26.1

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ABHD2 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. [provided by RefSeq, Jan 2017]

ABHD2 Details

Gene Symbol : ABHD2

Gene Name : Abhydrolase domain containing 2

Chromosome : CHR 15: 890,881,49-892,023,59

Locus : 15q26.1

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