ABCD4 Protein


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Official Full Name ATP-binding cassette, sub-family D (ALD), member 4
Background 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 at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding.
Synonyms ABCD4; ATP-binding cassette, sub-family D (ALD), member 4; P70R; P79R; ABC41; MAHCJ; PMP69; PXMP1L; EST352188;
    • Species :
    • Homo sapiens (Human)
    • Human
    • Mouse
    • Mus musculus (Mouse)
    • Zebrafish
    • Source :
    • E.coli
    • E.coli expression system
    • E.Coli or Yeast
    • HEK293
    • HEK293T
    • Mammalian Cell
    • Tag :
    • C-Myc/DDK
    • His
    • His (Fc)-Avi
    • T7
    • Myc/DDK
    • N/A
    Species Cat.# Product name Source (Host) Tag Protein Length Price
    Human ABCD4-3739H Recombinant Human ABCD4, His-tagged E.Coli or Yeast His Inquiry
    Human ABCD4-9223H Recombinant Human ABCD4, His-tagged E.coli His Inquiry
    Mouse ABCD4-1110M Recombinant Mouse ABCD4 Protein Mammalian Cell His Inquiry
    Mouse Abcd4-3738M Recombinant Mouse Abcd4, His-tagged E.Coli or Yeast His Inquiry
    Mouse Abcd4-8149M Recombinant Mouse Abcd4 protein, His & T7-tagged E.coli His/T7 Inquiry
    Zebrafish ABCD4-4559Z Recombinant Zebrafish ABCD4 Mammalian Cell His Inquiry
    Human ABCD4-9147HCL Recombinant Human ABCD4 293 Cell Lysate HEK293 N/A Inquiry
    Human ABCD4-01H Recombinant Human ABCD4 Protein, C-Myc/DDK-Tagged HEK293T C-Myc/DDK Inquiry
    Mouse ABCD4-203M Recombinant Mouse ABCD4 Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi Inquiry
    Mus musculus (Mouse) RFL-15437MF Recombinant Full Length Mouse Atp-Binding Cassette Sub-Family D Member 4(Abcd4) Protein, His-Tagged E.coli expression system His Inquiry
    Homo sapiens (Human) RFL-3580HF Recombinant Full Length Human Atp-Binding Cassette Sub-Family D Member 4(Abcd4) Protein, His-Tagged E.coli expression system His Inquiry
    Human ABCD4-1698H Recombinant Human ABCD4 Protein, Myc/DDK-tagged, C13 and N15-labeled HEK293T Myc/DDK Inquiry
    Mouse Abcd4-1461M Recombinant Mouse Abcd4 Protein, Myc/DDK-tagged HEK293T Myc/DDK Inquiry

    ABCD4 involved in several pathways and played different roles in them. We selected most pathways ABCD4 participated on our site, such as ABC transporters, Peroxisome, which may be useful for your reference. Also, other proteins which involved in the same pathway with ABCD4 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

    Pathway Name Pathway Related Protein
    ABC transporters ABCD2; ABCC4; TAP2; ABCA5; ABCG1; ABCD1; ABCC6; ABCA1B; ABCC5; ABCB1A
    Peroxisome DECR2; SOD2; ABCD1; PHYH; HSD17B4; GSTK1; MPV17L2; CAT; PAOX; PEX14

    ABCD4 has several biochemical functions, for example, ATP binding, ATPase activity, coupled to transmembrane movement of substances. Some of the functions are cooperated with other proteins, some of the functions could acted by ABCD4 itself. We selected most functions ABCD4 had, and list some proteins which have the same functions with ABCD4. You can find most of the proteins on our site.

    Function Related Protein
    ATPase activity, coupled to transmembrane movement of substances ABCA4; ABCG2A; ABCA9; ABCB7; ABCC5; ABCB1A; ABCB10; ABCB4; ABCC1; TAP1

    ABCD4 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with ABCD4 here. Most of them are supplied by our site. Hope this information will be useful for your research of ABCD4.


    Deme, JC; Hancock, MA; et al. Purification and interaction analyses of two human lysosomal vitamin B-12 transporters: LMBD1 and ABCD4. MOLECULAR MEMBRANE BIOLOGY 31:250-261(2014).
    Lee, A; Asahina, K; et al. Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: Common features in eukaryotic organisms. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 453:612-618(2014).

    Q&As (21)
    What family does ABCD4 belong to?07/09/2022

    Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.

    What are the consequences of ABCD4 mutations on vitamin B12 levels?09/05/2022

    Mutations in the ABCD4 gene can lead to decreased levels of vitamin B12, as its transport into the peroxisomes is impaired.

    How is ABCD4 related to vitamin B12?08/11/2021

    ABCD4 is involved in the transport of vitamin B12 from the cytoplasm into the peroxisomes, where it is metabolized.

    Which genetic disorder is associated with mutations in the ABCD4 gene?31/08/2021

    Mutations in the ABCD4 gene are associated with a disorder called ABCD4-related disease, which affects the metabolism of vitamin B12.

    How is the ABCD4 protein transported to the peroxisomal membrane?25/08/2021

    ABCD4 is synthesized in the endoplasmic reticulum (ER) and subsequently targeted to the peroxisomal membrane through specific trafficking pathways.

    Does ABCD4 play a role in any specific metabolic pathways or cellular processes?20/06/2021

    ABCD4 plays a significant role in specific metabolic pathways and cellular processes related to cobalamin (vitamin B12) metabolism, including cobalamin transport, methionine and S-adenosylmethionine synthesis, Methylmalonyl-CoA mutase pathway and development of nervous system.

    Can ABCD4 mutations be inherited?21/03/2021

    Yes, ABCD4 mutations can be inherited in an autosomal recessive manner, meaning both parents must carry a mutated copy of the gene for the disorder to manifest in their offspring.

    What is the structure of ABCD4?04/12/2020

    ABCD4 is a transmembrane protein that consists of multiple domains, including transmembrane domains and ATP-binding domains.

    Can changes in ABCD4 expression levels affect cellular metabolism?08/09/2020

    Yes, alterations in ABCD4 expression levels can impact cellular metabolism, particularly fatty acid metabolism and the processing of vitamin B12.

    Can ABCD4 dysfunction lead to developmental abnormalities?17/12/2019

    In some cases, ABCD4 dysfunction can result in developmental abnormalities, particularly affecting the nervous system due to impaired vitamin B12 metabolism.

    Has the subcellular location of ABCD4 been studied in specific cell types or tissues?11/05/2019

    ABCD4 protein primarily locate in endoplasmic reticulum membrane and lysosome membrane.

    Which species are the portein of ABCD4 present in?03/05/2019

    ABCD4 protein is popular present in human, mouse, zebrafish, ecoli, bovine and rice.

    Are there any known regulatory elements or sequences in the ABCD4 gene?28/04/2019

    The ABCD4 gene contains various regulatory elements and sequences that control its expression, such as promoter regions, enhancers, and transcription factor binding sites.

    What type of protein is ABCD4 and what does it do?21/11/2018

    According to the record, ABCD4 is a kind of lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner

    What happens if the ABCD4 gene is mutated?02/10/2018

    Mutations in the ABCD4 gene may lead to a range of congenital vitamin B12 deficiency diseases, which may present with hypotonia, myelosuppression, macrocytic anemia, and heart disease

    Is ABCD4 expressed in all tissues of the human body?22/04/2018

    ABCD4 expression is found in various tissues, but its levels can vary, with higher expression observed in tissues involved in fatty acid metabolism and vitamin B12 transport.

    Are there any known substrates or molecules that ABCD4 interacts with or transports?29/09/2016

    ABCD4 is known to interact with and transport cobalam, playing a critical role in the intracellular transport of cobalamin across cellular membranes, particularly in lysosomes and peroxisomes.

    Are there any structural domains or motifs within the ABCD4 protein that are critical for its function?10/09/2016

    ATP-binding domains (NBDs) and Transmembrane domains (TMDs) are two key domains found in ABCD4.

    Are there any known animal models for studying ABCD4-related disease?05/06/2016

    Yes, animal models such as mice have been developed to study ABCD4-related disease and gain insights into its pathophysiology.

    Can ABCD4-related disease manifest differently in different individuals?05/06/2016

    Yes, the manifestation of ABCD4-related disease can vary among individuals, leading to a spectrum of symptoms and severity. 

    How does ABCD4 interact with other molecules or proteins to carry out its function?07/01/2016

    ABCD4 Interacts with LMBRD1 and this interaction induces the translocation of ABCD4 from the ER to the lysosome membrane

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