产品名称
FA2H Rabbit Polyclonal Antibody
别名
Fatty acid 2-hydroxylase (EC 1.-.-.-) (Fatty acid alpha-hydroxylase)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79152
Human Swissprot No.
Q7L5A8
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q7L5A8/entry
Mouse Swissprot No.
Q5MPP0
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q5MPP0
免疫原
Synthesized peptide derived from human FA2H. at AA range: 101-150
特异性
FA2H Polyclonal Antibody detects endogenous levels of FA2H
稀释度
WB 1:500-2000, ELISA 1:10000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010],
组织表达
Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney (PubMed:15337768).
细胞定位
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Microsome membrane ; Multi-pass membrane protein .
功能
cofactor:Iron.,disease:Defects in FA2H are the cause of leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (DLDSP) [MIM:612443]. The disorder consists of a progressive neurologic disease manifested by spasticity, disordered tonicity of muscle, and white matter degeneration.,domain:The histidine box domains may contain the active site and/or be involved in metal ion binding.,function:Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.,induction:Up-regulated during keratinocyte differentiation.,similarity:Belongs to the SCS7 family.,similarity:Contains 1 cytochrome b5 heme-binding domain.,tissue specificity:Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
