Recombinant Human ABCD4, His-tagged

• Cat.No.: ABCD4-9223H
• Product Overview: Recombinant human ABCD4 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• 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.
• Source: E.coli
• Species: Human
• Tag: His
• 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 Information

• 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
• MIM: 603214
• 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

Reviews

11/01/2022

It made it convenient to prepare my experimental solutions.

11/17/2021

The service team promptly addressing my inquiries.

11/23/2019

It had exceptional purity.

01/19/2019

The functional study involving the protein product demonstrated the expected effects

02/01/2016

I found it to be a great value for the price

Q&As

What family does ABCD4 belong to?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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

Which species are the portein of ABCD4 present in?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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