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The ALK gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain and hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumors including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[Provided by RefSeq, Jan 2011].

Alternative names: Anaplastic lymphoma kinase also known as ALK tyrosine kinase receptor or CD246

Alpha-fetoprotein is a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly.

Alternative names: AFPD; FETA; HPAFP; Alpha-1-Fetoprotein; Alpha-Fetoglobulin

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Anti-Human Alpha-1-Acid Glycoprotein (AGP)

Alpha-1-acid glycoprotein serves as a transport protein for various hormones, drugs, antibiotics and steroids.  It is a strong acute phase protein and serum levels rise rapidly following inflammatory processes.

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Anti-Human Albumin (ALB)

Albumin is a plasma protein primarily responsible for maintenance of oncotic pressure in the vasculature.  ALB provides a source of amino acids for protein synthesis and serves as a transport protein for many drugs, hormones and metallic ions.  Elevated urine levels of ALB are a sensitive marker of evolving diabetic nephropathy.

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This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011].

Alternative names: AMACRD; CBAS4; RACE; RM

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Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity.

Alternative names: ANX1; LPC1; ANXA1

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Anti-Human Apolipoprotein-A1 (Apo-A1)

Apo A1 is the major protein component of high-density lipoprotein.  Depressed levels of Apo A1 are an independent risk factor for coronary artery disease.

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Anti-Human Apolipoprotein B (Apo B)

Apo B is the major protein component of low-density lipoprotein.  Elevated Apo B levels are associated with increased risk for cardiovascular disease.

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Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. [provided by RefSeq].

Alternative names: ARG1; OTTHUMP00000017209; Arginase 1; liver-type arginase; type I arginase; arginase, liver.

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