Fa2h Gene Summary [Mouse]

Enables fatty acid 2-hydroxylase activity. Involved in galactosylceramide biosynthetic process; glucosylceramide biosynthetic process; and plasma membrane raft organization. Acts upstream of or within several processes, including myelin maintenance; regulation of epithelial cell proliferation; and sebaceous gland cell differentiation. Located in endoplasmic reticulum. Is expressed in back skin; sebaceous gland; skin; spinal cord; and vibrissa. Used to study hereditary spastic paraplegia 35. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 35. Orthologous to human FA2H (fatty acid 2-hydroxylase). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Fa2h
Official Name
fatty acid 2-hydroxylase [Source:MGI Symbol;Acc:MGI:2443327]
Ensembl ID
ENSMUSG00000033579
Bio databases IDs NCBI: 338521 Ensembl: ENSMUSG00000033579
Aliases fatty acid 2-hydroxylase
Synonyms FAAH, FAH1, fatty acid 2-hydroxylase, FAXDC1, G630055L08Rik, LOC688373, RGD1310347, SCS7, SPG35, Wdr59
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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
regulated by
regulates
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 mouse 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.