Abcd4 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, it is speculated that the human protein may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. [provided by RefSeq, Jul 2008]

Details

Type
Retained Intron
Official Symbol
Abcd4
Official Name
ATP-binding cassette, sub-family D (ALD), member 4 [Source:MGI Symbol;Acc:MGI:1349217]
Ensembl ID
ENSMUSG00000021240
Bio databases IDs NCBI: 19300 Ensembl: ENSMUSG00000021240
Aliases ATP-binding cassette, sub-family D (ALD), member 4
Synonyms ABC41, ATP binding cassette subfamily D member 4, ATP-binding cassette, sub-family D member 4, EST352188, MAHCJ, P69r, P70R, P79R, PMP69, PXMP1L
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 Abcd4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ABC transporter transmembrane region 2
  • vitamin B12-transporting ATPase
  • Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
  • protein binding
  • ABC transporter
  • identical protein binding
  • 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
  • methylmalonic aciduria with homocystinuria cblJ type
  • methylmalonic aciduria with homocystinuria cblC type
  • chronic fatigue syndrome
regulated by
regulates
  • cyanocobalamin

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
  • endoplasmic reticulum membrane
  • lysosome membrane
  • peroxisome membrane
  • peroxisomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Abcd4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • fatty acid beta-oxidation
  • transmembrane transport
  • peroxisome organization
  • very long-chain fatty acid catabolic process
  • cobalamin metabolic process
  • cobalamin transport
  • peroxisomal long-chain fatty acid import

Cellular Component

Where in the cell the gene product is active
  • peroxisomal membrane
  • endoplasmic reticulum membrane
  • peroxisome
  • membrane
  • lysosomal membrane
  • ATP-binding cassette (ABC) transporter complex

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • identical protein binding
  • ATPase activity, coupled to transmembrane movement of substances
  • cobalamin-transporting ATPase activity
  • protein binding
  • long-chain fatty acid transporter activity

Gene-Specific Assays for Results You Can Trust

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