GCSH
entrez
2653
canonical
uniprot
P23434
canonical
ensembl
ENSG00000140905
resolver
ensembl
ENSG00000291958
resolver
ensp
ENSP00000319531
resolver
ensp
ENSP00000517634
resolver
ensp
ENSP00000549548
resolver
enst
ENST00000315467
resolver
enst
ENST00000709349
resolver
genesymbol
GCSH
resolver
hgnc
HGNC:4208
resolver
uniprot
Q9H1E9
resolver
uniprot_entry
GCSH_HUMAN
resolver
uniprot_sec
Q9H1E9
resolver
amino_acid_sequence
MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWVTTENGIGTVGISNFAQEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYEDGWLIKMTLSNPSELDELMSEEAYEKYIKSIEE
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 7 (MMDS7) [MIM:620423]: An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur. {ECO:0000269|PubMed:33890291, ECO:0000269|PubMed:36190515}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex (DLST) (PubMed:36190515). {ECO:0000269|PubMed:1671321, ECO:0000269|PubMed:36190515}.
uniprot
proteins
mass_dalton
18885
uniprot
proteins
protein_family
GcvH family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
1671321
uniprot
proteins
pubmed
2025283
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33890291
uniprot
proteins
pubmed
36190515
uniprot
proteins
sequence_length
173
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:36190515}.
uniprot
proteins