FA2H Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | FA2H |
| Official Name | fatty acid 2-hydroxylase [Source:HGNC Symbol;Acc:HGNC:21197] |
| Ensembl ID | ENSG00000103089 |
| Bio databases IDs | |
| Aliases | fatty acid 2-hydroxylase, fatty acid hydroxylase |
| Synonyms | FAAH, FAH1, fatty acid 2-hydroxylase, FAXDC1, G630055L08Rik, LOC688373, RGD1310347, SCS7, SPG35, Wdr59 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FA2H often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fatty acid hydroxylase
- monophenol:oxygen oxidoreductase
- Cytochrome b5-like Heme/Steroid binding domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- neoplasia
- autosomal recessive spastic paraplegia type 35 with neurodegeneration
- spastic paraplegia
- autosomal recessive spastic paraplegia type 35
- neurodegeneration with brain iron accumulation
- lung adenocarcinoma
- edema
- lung adenocarcinoma formation
- organismal death
role in cell
- expression in
- phosphorylation in
- proliferation
- degeneration
- cell viability
- binding in
- migration
- differentiation
- cytotoxicity
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FA2H gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system myelin maintenance
- ceramide biosynthetic process
- galactosylceramide biosynthetic process
- fatty acid biosynthetic process
- establishment of skin barrier
- fatty acid metabolic process
- regulation of hair cycle
- glucosylceramide biosynthetic process
- peripheral nervous system myelin maintenance
- sebaceous gland cell differentiation
- sphingolipid biosynthetic process
- lipid modification
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- iron ion binding
- fatty acid alpha-hydroxylase activity
- heme binding