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A few hepatocellular carcinomas, renal and prostate cancer along with rare cases of squamous cell carcinoma of skin, cervical adenocarcinoma and pancreatic cancer showed weak to moderate cytoplasmic positivity. Other malignant cells were negative.
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]