Recombinant Human ABCD4, His-tagged
|Product Overview :||Recombinant human ABCD4 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.|
- Gene Information
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|Description :||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.|
|Protein length :||335-606a.a.|
|Storage :||The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.|
|Storage Buffer :||1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.|
|Gene Name :||ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 [ Homo sapiens (human) ]|
|Official Symbol :||ABCD4|
|Synonyms :||ABCD4; ATP-binding cassette, sub-family D (ALD), member 4; ABC41; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L; 69 kDa peroxisomal ABC-transporter; ATP-binding cassette sub-family D member 4; PMP70-related protein; PXMP1-L; peroxisomal membrane protein 69|
|Gene ID :||5826|
|mRNA Refseq :||NM_005050.3|
|Protein Refseq :||NP_005041.1|
|UniProt ID :||O14678|
|Chromosome Location :||14q24.3|
|Pathway :||ABC transporters, organism-specific biosystem; ABC transporters, conserved biosystem; Peroxisome, organism-specific biosystem; Peroxisome, conserved biosystem|
|Function :||ATP binding; ATPase activity, coupled to transmembrane movement of substances|
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For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
Q&As (21)Ask a question
Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Mutations in the ABCD4 gene can lead to decreased levels of vitamin B12, as its transport into the peroxisomes is impaired.
ABCD4 is involved in the transport of vitamin B12 from the cytoplasm into the peroxisomes, where it is metabolized.
Mutations in the ABCD4 gene are associated with a disorder called ABCD4-related disease, which affects the metabolism of vitamin B12.
ABCD4 is synthesized in the endoplasmic reticulum (ER) and subsequently targeted to the peroxisomal membrane through specific trafficking pathways.
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.
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.
ABCD4 is a transmembrane protein that consists of multiple domains, including transmembrane domains and ATP-binding domains.
Yes, alterations in ABCD4 expression levels can impact cellular metabolism, particularly fatty acid metabolism and the processing of vitamin B12.
In some cases, ABCD4 dysfunction can result in developmental abnormalities, particularly affecting the nervous system due to impaired vitamin B12 metabolism.
ABCD4 protein primarily locate in endoplasmic reticulum membrane and lysosome membrane.
ABCD4 protein is popular present in human, mouse, zebrafish, ecoli, bovine and rice.
The ABCD4 gene contains various regulatory elements and sequences that control its expression, such as promoter regions, enhancers, and transcription factor binding sites.
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
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
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.
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.
ATP-binding domains (NBDs) and Transmembrane domains (TMDs) are two key domains found in ABCD4.
Yes, animal models such as mice have been developed to study ABCD4-related disease and gain insights into its pathophysiology.
Yes, the manifestation of ABCD4-related disease can vary among individuals, leading to a spectrum of symptoms and severity.
ABCD4 Interacts with LMBRD1 and this interaction induces the translocation of ABCD4 from the ER to the lysosome membrane
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