The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 45 kDa (predicted molecular weight: 45 kDa).
Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid signaling pathways.
Involvement in disease
Defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) [MIM:612674]. PHARC is a slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses.
Navia-Paldanius D et al. Biochemical and pharmacological characterization of human a/ß-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). J Lipid Res53:2413-24 (2012).
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