ABHD12 Antibody

說明書

中文名稱：

ABHD12兔多克隆抗體
貨號：

CSB-PA589699
規格：

￥2024
圖片：
Western blot analysis of extracts from COLO cells, using ABHD12 antibody.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) ABHD12 Polyclonal antibody
Uniprot No.：

Q8N2K0
基因名：

ABHD12
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Synthesized peptide derived from internal of Human ABHD12.
免疫原種屬：

Homo sapiens (Human)
克隆類型：

Polyclonal
純化方式：

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
濃度：

It differs from different batches. Please contact us to confirm it.
產品提供形式：

Liquid
應用范圍：

ELISA,WB

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:3000

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding.
基因功能參考文獻：
1. This study presented the various mutation of ABHD12 responsible for PHARC syndrome. PMID: 28448692
2. Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes. PMID: 27890673
3. ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems. PMID: 25743180
4. Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. PMID: 24697911
5. This is the first report of compound heterozygosity in PHARC and the first study to describe how a mutation might affect ABHD12 expression and function. PMID: 24027063
6. ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy PMID: 23490117
7. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy PMID: 22938382
8. Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol. PMID: 22969151
9. Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease. PMID: 20797687
顯示更多

收起更多
相關疾病：

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
亞細胞定位：

Endoplasmic reticulum membrane; Single-pass membrane protein.
蛋白家族：

Serine esterase family
數據庫鏈接：

HGNC: 15868

OMIM: 612674

KEGG: hsa:26090

STRING: 9606.ENSP00000365725

UniGene: Hs.441550

Most popular with customers

YWHAG Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
YWHAB Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC, IF, FC

Species Reactivity: Human, Mouse, Rat
Phospho-YAP1 (S127) Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
XPNPEP1 Recombinant Monoclonal Antibody

Applications: ELISA, IHC, FC

Species Reactivity: Human
XDH Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
WT1 Recombinant Monoclonal Antibody

Applications: ELISA, WB, IHC

Species Reactivity: Human
WDR5 Recombinant Monoclonal Antibody

Applications: ELISA, IHC, FC

Species Reactivity: Human
VIM Recombinant Monoclonal Antibody

Applications: ELISA, IHC, IF

Species Reactivity: Human