FA2H Antibody

Code CSB-PA316430
Size US$100
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  • Western Blot analysis of mouse-heart cells using primary antibody diluted at 1:2000(4°C overnight). Secondary antibody:Goat Anti-rabbit IgG IRDye 800( diluted at 1:5000, 25°C, 1 hour)
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Product Details

Uniprot No.
Target Names
FA2H
Alternative Names
FA2H; FAAH; FAXDC1; Fatty acid 2-hydroxylase; Fatty acid alpha-hydroxylase; Fatty acid hydroxylase domain-containing protein 1
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Synthesized peptide derived from Human FA2H. at AA range: 101-150
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Purification Method
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Form
Liquid
Tested Applications
WB,ELISA
Recommended Dilution
Application Recommended Dilution
WB 1:500-2000
ELISA 1:10000-20000
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis. FA2H is stereospecific for the production of (R)-2-hydroxy fatty acids. Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath. Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier. Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis. Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins.
Gene References into Functions
  1. Novel mutations in FA2H in Arab patients with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis were identified. PMID: 25496456
  2. Three novel mutations in Chinese patients significantly reduce FA2H enzyme activity leading to hereditary spastic paraplegia. PMID: 24359114
  3. Induced levels of PPARalpha may be involved in the Delta(9)-THC up-regulation of FA2H in MDA-MB-231 cells. PMID: 25291031
  4. One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. PMID: 24299421
  5. Identification of a novel triple heterozygous mutations in FA2H gene (c.968C>A; c.976G>A; c.688G>A) in a Chinese family with Hereditary Spastic Paraplegia Type 35. PMID: 23566484
  6. FA2H is a novel (9)-THC-regulated gene, and that (9)-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells. PMID: 23535410
  7. we report a novel mutation in FA2H gene in two sibs presenting with adult onset complicated spastic paraparesis and thin corpus callosum PMID: 22925154
  8. This study did not find any mutations in the FA2H gene in patients with neurodegeneration with brain iron accumulation. PMID: 22704260
  9. a novel homozygous c.270+3A>T mutation altered FA2H function led to a severe phenotype, with clinical features overlapping those in three FA2H-associated disorders PMID: 21592092
  10. The 2-hydroxylated sphingomyelin (SM) profiles were characterized in blood and fibroblasts from patients harboring a deleterious FA2H mutation. PMID: 21599921
  11. Mutations in FA2H are associated with hereditary spastic paraplegia. PMID: 20104589
  12. the human FA2H gene encodes a fatty acid 2-hydroxylase involved in the formation of myelin 2-hydroxy galactosylceramides and -sulfatides PMID: 15337768
  13. late differentiation-linked increases in FA2H expression are essential for epidermal permeability barrier homeostasis. PMID: 17355976
  14. Mutations in FA2H are associated with leukodystrophy with spastic paraparesis and dystonia. PMID: 19068277

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Involvement in disease
Spastic paraplegia 35, autosomal recessive (SPG35)
Subcellular Location
Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein.
Protein Families
Sterol desaturase family, SCS7 subfamily
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.
Database Links

HGNC: 21197

OMIM: 611026

KEGG: hsa:79152

STRING: 9606.ENSP00000219368

UniGene: Hs.461329

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