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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| FA2H-20-RE | 20 (40 μL) | 200 μL |  |
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| FA2H-20-OR | 20 (40 μL) | 200 μL |  |
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| FA2H-20-GO | 20 (40 μL) | 200 μL |  |
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| FA2H-20-GR | 20 (40 μL) | 200 μL |  |
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| FA2H-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : FA2H
Gene Name : Fatty acid 2-hydroxylase
Chromosome : CHR 16: 747,748,30-747,129,54
Locus : 16q23.1
Alt. Genes : FEM1B
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