基因名：
GCSH
产品别名：
GCE； NKH； GCSH； glycine cleavage system protein H； glycine cleavage system protein H； glycine cleavage system H protein, mitochondrial； glycine cleavage system protein H (aminomethyl carrier)； lipoic acid-containing protein； mitochondrial glycine cleavage system H-protein； 甘氨酸裂解系统H蛋白；
背景信息：
GCSH is a 173 amino acid mitochondrial protein that contains one lipoyl-binding domain and belongs to the gcvH family. Defects in the gene encoding GCSH are the cause of glycine encephalopathy (GCE), an autosomal recessive disease that is also referred to as non-ketotic hyperglycinemia (NKH). Characterized by severe neurological symptoms, patients with GCE have a large amount of glycine accumulated in their body fluids. The gene encoding GCSH maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome.
