ABCA7: Difference between revisions
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The protein encoded by this gene is a member of the superfamily of [[ATP-binding cassette transporter|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, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and White. This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral [[leukocyte]]s, [[thymus]], [[spleen]], and [[bone marrow]]. The function of this protein is not yet known; however, the expression pattern suggests a role in [[lipid]] [[Homeostasis#Biological|homeostasis]] in cells of the [[immune system]]. Alternative splicing of this gene results in two transcript variants.<ref name="entrez">{{cite web | title = Entrez Gene: ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10347| accessdate = }}</ref> |
The protein encoded by this gene is a member of the superfamily of [[ATP-binding cassette transporter|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, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and White. This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral [[leukocyte]]s, [[thymus]], [[spleen]], and [[bone marrow]]. The function of this protein is not yet known; however, the expression pattern suggests a role in [[lipid]] [[Homeostasis#Biological|homeostasis]] in cells of the [[immune system]]. Alternative splicing of this gene results in two transcript variants.<ref name="entrez">{{cite web | title = Entrez Gene: ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10347| accessdate = }}</ref> |
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The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present |
The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present.<ref>Science News 18April2015 pg 12</ref> |
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==See also== |
==See also== |
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[[Category:ABC transporters]] |
[[Category:ABC transporters]] |
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{{membrane-protein-stub}} |
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Revision as of 07:20, 29 April 2015
Template:PBB ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.[1]
Function
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, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and White. This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. Alternative splicing of this gene results in two transcript variants.[1]
The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present.[2]
See also
References
- ^ a b "Entrez Gene: ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7".
- ^ Science News 18April2015 pg 12
Further reading
External links
- ABCA7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ABCA7 human gene location in the UCSC Genome Browser.
- ABCA7 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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