Recombinant Mouse ABCD4 Protein

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