Rabbit anti-Human Fatty Acid 2-hydrolase (Fa2H) Polyclonal Antibody | anti-FA2H antibody

Fatty Acid 2-hydrolase (Fa2H)

Cat. Num. AAA395492

• Gene Names: FA2H; FAAH; FAH1; SCS7; SPG35; FAXDC1
• Reactivity: Human
• Applications: Western Blot
• Purity: Ammonium Sulfate Precipitation
• Synonyms: Fatty Acid 2-hydrolase (Fa2H); Polyclonal Antibody; Fatty acid 2-hydroxylase; FA2H; anti-FA2H antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Purity/Purification: Ammonium Sulfate Precipitation
• Form/Format: Provided as solution in phosphate buffered saline with 0.08% sodium azide
• Sequence Length: 372

• Applicable Applications for anti-FA2H antibody: Western Blot (WB)
• Immunogen: Synthetic peptide derived from human fatty acid 2-hydrolase (FA2H) protein.
• Positive Control: Pancreas
• Preparation and Storage: Product should be stored at -20 degree C. Aliquot to avoid freeze/thaw cycles

Related Product Information for anti-FA2H antibody

2-Hydroxysphingolipids are a subset of sphingolipids containing 2-hydroxy fatty acids. The 2-hydroxylation occurs during de novo ceramide synthesis and is catalyzed by fatty acid 2-hydroxylase (also known as fatty acid alpha-hydroxylase). In mammals, 2-hydroxysphingolipids are present abundantly in brain because the major myelin lipids galactosylceramides and sulfatides contain 2-hydroxy fatty acids. Here we report identification and characterization of a human gene that encodes a fatty acid 2-hydroxylase. Data base searches revealed a human homologue of the yeast ceramide 2-hydroxylase gene (FAH1), which we named FA2H. The FA2H gene encodes a 372-amino acid protein with 36% identity and 46% similarity to yeast Fah1p. The amino acid sequence indicates that FA2H protein contains an N-terminal cytochrome b5 domain and four potential transmembrane domains. FA2H also contains the iron-binding histidine motif conserved among membrane-bound desaturases/hydroxylases. COS7 cells expressing human FA2H contained 3-20-fold higher levels of 2-hydroxyceramides (C16, C18, C24, and C24:1) and 2-hydroxy fatty acids compared with control cells. Microsomal fractions prepared from transfected COS7 cells showed tetracosanoic acid 2-hydroxylase activities in an NADPH- and NADPH: cytochrome P-450 reductase-dependent manner. FA2H lacking the N-terminal cytochrome b5 domain had little activity, indicating that this domain is a functional component of this enzyme. Northern blot analysis showed that the FA2H gene is highly expressed in brain and colon tissues. These results demonstrate that the human FA2H gene encodes a fatty acid 2-hydroxylase. FA2H is likely involved in the formation of myelin 2-hydroxy galactosylceramides and -sulfatides.

Product Categories/Family for anti-FA2H antibody

Polyclonal Antibody; Growth Factors & Receptors

NCBI and Uniprot Product Information

• NCBI GI #: 205360949
• NCBI GeneID: 79152
• NCBI Accession #: NP_077282.3
• NCBI GenBank Nucleotide #: NM_024306.4
• UniProt Accession #: Q7L5A8; O75213; Q96DK1; Q9H1A5
• Molecular Weight: 43 kDa
• NCBI Official Full Name: fatty acid 2-hydroxylase
• NCBI Official Synonym Full Names: fatty acid 2-hydroxylase
• NCBI Official Symbol: FA2H
• NCBI Official Synonym Symbols: FAAH; FAH1; SCS7; SPG35; FAXDC1
• NCBI Protein Information: fatty acid 2-hydroxylase; fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1; spastic paraplegia 35 (autosomal recessive)
• UniProt Protein Name: Fatty acid 2-hydroxylase
• Protein Family: Fatty acid 2-hydroxylase
• UniProt Gene Name: FA2H
• UniProt Synonym Gene Names: FAAH
• UniProt Entry Name: FA2H_HUMAN

NCBI Description

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]

Uniprot Description

Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. Ref.6 Ref.7

Cofactor: Iron

By similarity.

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein Ref.6.

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. Ref.6 Ref.7

Induction: Up-regulated during keratinocyte differentiation. Ref.7

Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding.

Involvement in disease: Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities: Belongs to the sterol desaturase family. SCS7 subfamily.Contains 1 cytochrome b5 heme-binding domain.

Sequence caution: The sequence AAC23496.1 differs from that shown. Reason: Erroneous gene model prediction.