|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||Cat.#||Product name||Source (Host)||Tag||Protein Length||Price|
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.
|ATP binding||RUNX3; EPHB3; MAP3K9; EIF2B2; AURKB; PRKCG; DDX25; CLCN3; ATAD2; PRKD2|
|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.
DLEU1; XRCC6; PEA15; SARAF
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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