GCSH gene

glycine cleavage system protein H

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]

From UniProt:

The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST).

From NCBI Gene:

  • Non-ketotic hyperglycinemia

From UniProt:

Non-ketotic hyperglycinemia (NKH): Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. [MIM:605899]

Cytogenetic Location: 16q23.2, which is the long (q) arm of chromosome 16 at position 23.2

Molecular Location: base pairs 81,081,947 to 81,096,375 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q23.2, which is the long (q) arm of chromosome 16 at position 23.2
  • GCE
  • NKH