Fatty Acid 2-Hydroxylase (FA2H) Antibody – Rabbit Polyclonal

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]

FA2H: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35). 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.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; EC 1.-.-.-; Oxidoreductase

Chromosomal Location of Human Ortholog: 16q23

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane

Molecular Function: iron ion binding; heme binding

Biological Process: sphingolipid metabolic process; sebaceous gland cell differentiation; myelin maintenance in the central nervous system; myelin maintenance in the peripheral nervous system; fatty acid metabolic process; lipid modification; regulation of hair cycle; fatty acid biosynthetic process; regulation of cell proliferation

Disease: Spastic Paraplegia 35, Autosomal Recessive