FA2H Rabbit Polyclonal Antibody

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.