FA2H
-
Official Full Name
fatty acid 2-hydroxylase -
Overview
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. -
Synonyms
FA2H;fatty acid 2-hydroxylase;fatty acid hydroxylase domain containing 1 , FAXDC1, spastic paraplegia 35 (autosomal recessive) , SPG35;FAAH;fatty acid hydroxylase;FLJ25287;FA2H_HUMAN;FAH1;Fatty acid 2 hydroxylase;Fatty acid alpha hydroxylase;Fatty acid alpha-hydroxylase;Fatty acid hydroxylase domain containing 1;FAXDC1;SCS7;spastic paraplegia 35 (autosomal recessive);SPG35
Recombinant Proteins
- Human
- Rhesus macaque
- Rat
- Zebrafish
- Cynomolgus
- Mouse
- Mus musculus
- Macaca fascicularis
- E.coli
- Mammalian Cells
- HEK293
- Wheat Germ
- In Vitro Cell Free System
- His
- Myc&DDK
- GST
- Non
- His&Fc&Avi
Involved Pathway
FA2H involved in several pathways and played different roles in them. We selected most pathways FA2H participated on our site, such as Metabolism,Metabolism of lipids and lipoproteins,Sphingolipid de novo biosynthesis, which may be useful for your reference. Also, other proteins which involved in the same pathway with FA2H were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Metabolism of lipids and lipoproteins | ACSF3,MED25,HSD17B11,SIN3B,ACAD11,GC,FAAH2,NEU3,PTGR1,SGMS2 |
| Sphingolipid metabolism | PPM1L,VAPB,SMPD5,LASS2,OSBP,SPHK1,COL4A3BP,CERS5,ARSK,ASAH1A |
| Metabolism | APOC2,GLS2B,AKR1B15,CERS3B,COX18,KIAA1199,ARV1,COX6C,PAOX,PDK3 |
| Sphingolipid de novo biosynthesis | GDF1,COL4A3BP,PPM1LB,ACER1,VAPB,SGMS2,CERS3B,OSBP,PPM1L,SPTLC1 |
Protein Function
FA2H has several biochemical functions, for example, fatty acid alpha-hydroxylase activity,heme binding,iron ion binding. Some of the functions are cooperated with other proteins, some of the functions could acted by FA2H itself. We selected most functions FA2H had, and list some proteins which have the same functions with FA2H. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| heme binding | LPO,CYP2A7,CYP1C1,CYP4V7,CYP2X8,CYP1A1,CYP2C55,CYP3A5,CYP2K22,CYP4F18 |
| iron ion binding | CYP2B19,P4HA1A,CYP2AA3,CYP8B3,JHDM1D,HBG1,HBE,ALOX15B,P4HA1,CYP1B1 |
Interacting Protein
FA2H has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with FA2H here. Most of them are supplied by our site. Hope this information will be useful for your research of FA2H.
Resources
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References
- Pedroso, JL; Handfas, BW; et al. Fatty acid 2-hydroxylase deficiency Clinical features and brain iron accumulation. NEUROLOGY 84:960-961(2015).
- Liao, X; Luo, Y; et al. SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. CLINICAL GENETICS 87:85-89(2015).
