Cell Biology Antibodies 13
Anti-ABHD12 Antibody (CAB17678)
- SKU:
- CAB17678
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-ABHD12 Antibody |
Antibody SKU: | CAB17678 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 110-250 of human ABHD12 (NP_056415.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Rat |
Positive Samples: | Rat brain, Rat pancreas |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 110-250 of human ABHD12 (NP_056415.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | YFID LKKP QDQG LNHT CNYY LQPE EDVT IGVW HTVP AVWW KNAQ GKDQ MWYE DALA SSHP IILY LHGN AGTR GGDH RVEL YKVL SSLG YHVV TFDY RGWG DSVG TPSE RGMT YDAL HVFD WIKA RSGD NPVY IWGH SLGT G |
Gene ID: | 26090 |
Uniprot: | Q8N2K0 |
Cellular Location: | |
Calculated MW: | |
Observed MW: | 45kDa |
Synonyms: | ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2, ABHD12 |
Background: | 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 Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | 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 Code: | Q8N2K0 |
NCBI GenInfo Identifier: | 38604894 |
NCBI Gene ID: | 26090 |
NCBI Accession: | Q8N2K0.2 |
UniProt Secondary Accession: | Q8N2K0,Q5T710, Q5T711, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6 A6NED4, A6NJ90, A8K450, B4DE71, |
UniProt Related Accession: | Q8N2K0 |
Molecular Weight: | 41,387 Da |
NCBI Full Name: | Monoacylglycerol lipase ABHD12 |
NCBI Synonym Full Names: | abhydrolase domain containing 12 |
NCBI Official Symbol: | ABHD12 |
NCBI Official Synonym Symbols: | PHARC; ABHD12A; BEM46L2; C20orf22; dJ965G21.2 |
NCBI Protein Information: | monoacylglycerol lipase ABHD12 |
UniProt Protein Name: | Monoacylglycerol lipase ABHD12 |
UniProt Synonym Protein Names: | 2-arachidonoylglycerol hydrolaseCurated; Abhydrolase domain-containing protein 12Curated |
Protein Family: | Monoacylglycerol lipase |
UniProt Gene Name: | ABHD12 |
UniProt Entry Name: | ABD12_HUMAN |