fatty acid 2-hydroxylase

Symbol

FA2H (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
C25A1.5 Caenorhabditis elegans
fa2h Drosophila melanogaster
fa2h Danio rerio
Fa2h Mus musculus
Fa2h Rattus norvegicus
SCS7 Saccharomyces cerevisiae
SPAC19G12.08 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA4114 Gene expression of FA2H decreases with age Molecular skin Human FA2H —

GO Terms

GO IDGO TermGO Category
GO:0006633 fatty acid biosynthetic process biological_process
GO:0006665 sphingolipid metabolic process biological_process
GO:0006810 transport biological_process
GO:0008219 cell death biological_process
GO:0022900 electron transport chain biological_process
GO:0005783 endoplasmic reticulum cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0005792 microsome cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0005506 iron ion binding molecular_function
GO:0016491 oxidoreductase activity molecular_function
GO:0020037 heme binding molecular_function
GO:0046872 metal ion binding molecular_function