A synthesized peptide derived from human BCAS4, corresponding to a region within the internal amino acids.
The gene encoding BCAS4 (Breast carcinoma-amplified sequence 4), a 211 amino acid protein, is found in a region on chromosome 20 that is frequently amplified in human breast cancer.The amplification and translocation between the BCAS4 gene and the BCAS3 gene, with a 17q23 locus, results in a fusion transcript that is overexpressed in MCF-7 cells. Also, deletion of chromosomal region 20q13.13-q13.2 and resultant deletion of BCAS4, as well as three other genes, is the cause of Okihiro syndrome, a disease characterized by ocular and upper limb anomalies.
A synthesized peptide derived from human BCAT1/ECA39, corresponding to a region within the internal amino acids.
This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described.
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