ABCD4 ist ein Gen, das durch das Symbol ABCD4 kodiert wird. Andere Namen sind: ATP-binding cassette sub-family D member 4; PMP70-related protein; P70R; Peroxisomal membrane protein 1-like; PXMP1-L; Peroxisomal membrane protein 69; PMP69; PXMP1L. ABCD4 hat eine Masse von 68.6kDa, eine Aminosäurelänge von 606, und ist an Methylmalonic aciduria and homocystinuria type cblJ beteiligt.
Wir bieten 7 antikörper gegen ABCD4, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.
Entrez Zusammenfassung
The 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 it 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. Alternative splicing results in several protein-coding and non-protein-coding variants.
Gewebespezifität
Ubiquitous.
Rolle bei Krankheiten
Methylmalonic aciduria and homocystinuria type cblJ: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.
Sequenzähnlichkeiten
Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Zellort
Peroxisome membrane.
