Family

Monoacylglycerol lipase protein ABHD12 (IPR026605)

Short name: ABHD12

Family relationships

None.

Description

Monoacylglycerol lipase protein ABHD12 (also known as the abhydrolase domain-containing protein 12) has 2-arachidonoylglycerol hydrolase activity [PMID: 18096503]. In humans, defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC). PHARC is a slowly progressive neurologic disorder [PMID: 20797687].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

GO:0047372 acylglycerol lipase activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER