Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.
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.
Involvement in 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. 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.
Belongs to the sterol desaturase family. SCS7 subfamily. Contains 1 cytochrome b5 heme-binding domain.
The histidine box domains may contain the active site and/or be involved in metal ion binding.
Immunohistochemical analysis of formalin-fixed, paraffin-embedded brain tissue labeling FA2H with ab175093 at 1/50 dilution. Detection utilised peroxidase conjugation of the secondary antibody and DAB staining.