Summary
Performance
Immunogen
Application
Background
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],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.,
Research Area
