ⓘ Category:Genes on human chromosome 9

ABCA1

ATP-binding cassette transporter ABCA1, also known as the cholesterol efflux regulatory protein is a protein which in humans is encoded by the ABCA1 gene. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.

ABCA2

ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2 gene. Membrane-associated proteins encoded by this gene is a member of the superfamily of ATP-binding cassette transporters the ABC. ABC proteins transport various molecules across extra - and intracellular membranes. ABC genes are divided into seven different subfamilies. This protein is a member of the subfamily АВС1. Members of the subfamily ABC1 category are only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is expressed in brain tissues and may play a role i ...

ABO (gene)

Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ABO gene in humans. It is ubiquitously expressed in many tissues and cell types. ABO determines the ABO blood group of an individual by modifying the oligosaccharides on cell surface glycoproteins. Variations in the sequence of the protein between individuals determine the type of modification and the blood group. The ABO gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

ACO1

The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements IREs, which are stem-loop structures found in the 5 UTR of ferritin mRNA, and in the 3 UTR of transferrin recepto ...

ADAMTS13

ADAMTS13 - also known as von Willebrand factor-cleaving protease - is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor, a large protein involved in blood clotting. It is secreted into the blood and degrades large vWf multimers, decreasing their activity.

ADAMTSL1

ADAMTS-like protein 1 is a protein that in humans is encoded by the ADAMTSL1 gene. This gene encodes a secreted protein resembling members of the ADAMTS in the disintegrin and metalloproteinase with thrombospondin motif family. This protein lacks the propeptide region and the metalloproteinase and disintegrin-like domains which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative spliced transcript variants have been described but their biological va ...