Q8N2K0.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
41,387 Da
NCBI Official Full Name
Monoacylglycerol lipase ABHD12
NCBI Official Synonym Full Names
abhydrolase domain containing 12
NCBI Official Synonym Symbols
PHARC; ABHD12A; BEM46L2; C20orf22; dJ965G21.2 [Similar Products]
NCBI Protein Information
monoacylglycerol lipase ABHD12
UniProt Protein Name
Monoacylglycerol lipase ABHD12
UniProt Synonym Protein Names
2-arachidonoylglycerol hydrolaseCurated; Abhydrolase domain-containing protein 12Curated
UniProt Entry Name
ABD12_HUMAN
NCBI Summary for ABHD12
This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
UniProt Comments for ABHD12
ABHD12: Has 2-arachidonoylglycerol hydrolase activity. May be a regulator of endocannabinoid signaling pathways. Defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC). 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. Belongs to the serine esterase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.1.1.23; Hydrolase; Membrane protein, integral
Chromosomal Location of Human Ortholog: 20p11.21
Cellular Component: integral to membrane; plasma membrane
Molecular Function: acylglycerol lipase activity
Biological Process: acylglycerol catabolic process
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Research Articles on ABHD12
Precautions
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Disclaimer
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Pathways associated with ABHD12 blocking peptide
Diseases associated with ABHD12 blocking peptide
Disease Name |
Pubmed Publications |
Abnormalities, Multiple Antibodies |
>4 publications with ABHD12 and Abnormalities, Multiple |
Inflammation Antibodies |
>4 publications with ABHD12 and Inflammation |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Antibodies |
>4 publications with ABHD12 and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
Disease Models, Animal Antibodies |
>2 publications with ABHD12 and Disease Models, Animal |
Cardiovascular Diseases Antibodies |
>2 publications with ABHD12 and Cardiovascular Diseases |
Fibrosis Antibodies |
>1 publications with ABHD12 and Fibrosis |
Heart Defects, Congenital Antibodies |
>1 publications with ABHD12 and Heart Defects, Congenital |
Kidney Diseases Antibodies |
>1 publications with ABHD12 and Kidney Diseases |
Fatty Liver Antibodies |
>1 publications with ABHD12 and Fatty Liver |
Necrosis Antibodies |
>1 publications with ABHD12 and Necrosis |
Organs/Tissues associated with ABHD12 blocking peptide
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