Abcd2 Gene Summary [Mouse]
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of Abcd1 and/or other peroxisomal ABC transporters. Mutations in the human gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | Abcd2 |
| Official Name | ATP-binding cassette, sub-family D (ALD), member 2 [Source:MGI Symbol;Acc:MGI:1349467] |
| Ensembl ID | ENSMUSG00000055782 |
| Bio databases IDs | |
| Aliases | ATP-binding cassette, sub-family D (ALD), member 2 |
| Synonyms | ABC39, ALDL1, ALDR, ALDRP, ATP binding cassette subfamily D member 2, ATP-binding cassette, sub-family D member 2, hALDR |
| Species | Mouse, Mus musculus |
| 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 mouse Abcd2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase activity, coupled to transmembrane movement of substances
- FeS assembly ATPase SufC
- Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
- amide transporter
- protein binding
- ATPase
- heme ABC exporter, ATP-binding protein CcmA
- ABC transporter transmembrane region 2
- long-chain fatty acid transporter
- cobalt transport protein ATP-binding subunit
- organophosphate ester transporter
- nucleobase, nucleoside, nucleotide and nucleic acid transporter
- transmembrane domain
- protein homodimerization
- nickel import ATP-binding protein NikE
- ABC transporter
- acyl-CoA hydrolase
- protein heterodimerization
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ataxia
- breast cancer
- astrocytosis
- Alzheimer disease
- gliosis
- X-linked adrenoleukodystrophy
- hyperactive behavior
- sensory ataxia
- abnormal involuntary movement
- Zellweger syndrome
role in cell
- expression in
- binding in
- accumulation in
- maintenance
- abnormal morphology
- loss
- production in
- degeneration
- beta-oxidation in
- damage
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
- cytosol
- peroxisome membrane
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Abcd2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to bacterium
- fatty acid beta-oxidation
- positive regulation of unsaturated fatty acid biosynthetic process
- positive regulation of fatty acid beta-oxidation
- peroxisome organization
- very long-chain fatty acid catabolic process
- negative regulation of cytokine production involved in inflammatory response
- very long-chain fatty acid metabolic process
- peroxisomal long-chain fatty acid import
- myelin maintenance
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- protein binding
- protein homodimerization activity
- protein heterodimerization activity
- acyl-CoA hydrolase activity
- long-chain fatty acid transporter activity