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
