The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.2 - 1 µg/ml. Predicted molecular weight: 43 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
功能Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.
组织特异性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.
疾病相关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. Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.
序列相似性Belongs to the sterol desaturase family. SCS7 subfamily. Contains 1 cytochrome b5 heme-binding domain.
结构域The histidine box domains may contain the active site and/or be involved in metal ion binding.