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ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA), also known as the cholesterol efflux regulatory protein (CERP) is a protein which in humans is encoded by the ABCA1 gene. [5] This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.
Tangier disease has an autosomal recessive pattern of inheritance.. Mutations to chromosome 9q31 lead to a defective ABCA1 transporter. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by ApoA1 in the bloodstream.
The ABCA1 subgroup is implicated in the development of genetic diseases. In the recessive Tangier's disease, the ABCA1 protein is mutated. Also, the ABCA4 maps to a region of chromosome 1p21 that contains the gene for Stargardt's disease. This gene is found to be highly expressed in rod photoreceptors and is mutated in Stargardt's disease ...
ABCA7 is shown associated with cellular phagocytotic function in vivo and in vitro, and expression of the ABCA7 gene is regulated by cell cholesterol mainly through the SRE/SREBP system in a negative feed-back fashion in contrast to positive feedback by the LXR/RXR system for ABCA1. [20] ABCA7 thus links cholesterol metabolism to host defense ...
24 11304 Ensembl ENSG00000198691 ENSMUSG00000028125 UniProt P78363 O35600 RefSeq (mRNA) NM_000350 NM_007378 RefSeq (protein) NP_000341 NP_031404 Location (UCSC) Chr 1: 93.99 – 94.12 Mb Chr 3: 121.84 – 121.97 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by ...
Human chromosome 9 gene stubs (289 P) Pages in category "Genes on human chromosome 9" The following 200 pages are in this category, out of approximately 515 total.
Therefore, ABCA1 prevents cholesterol accumulation in macrophages. By enhancing miR-33 function, the level of ABCA1 is decreased, leading to decreased cellular cholesterol efflux to apoA-1. On the other hand, by inhibiting miR-33 function, the level of ABCA1 is increased and increases the cholesterol efflux to apoA-1. Suppression of miR-33 will ...
ABCC1 is a highly conserved gene with polymorphisms occurring at very low frequencies of less than five percent. Polymorphisms in this gene are generally found in the form of a single-nucleotide polymorphism (SNP). [10] The greatest ethnic differences in polymorphisms within the ABCC1 are found between Caucasian and Asian populations.