system H protein, mitochondrial (abbreviated as GCSH) is a protein that in humans is encoded by the GCSH gene. Degradation of glycine is brought about by...
12 KB (1,457 words) - 16:40, 17 July 2025
Shukla, Anju (August 2021). "Biallelic start loss variant, c. 1A > G in GCSH is associated with variant nonketotic hyperglycinemia". Clinical Genetics...
17 KB (1,839 words) - 16:43, 17 July 2025
dehydrogenase complex (BCKDC) Leucine, isoleucine and valine degradation H-protein GCSH glycine cleavage system (GCS) Glycine and serine metabolism, folate metabolism...
48 KB (4,947 words) - 21:04, 9 July 2025
(types A and B) 1:150,000 (type C) Nonketotic hyperglycinemia GLDC, AMT, GCSH recessive 1:60,000 Nonsyndromic deafness Noonan syndrome PTPN11, KRAS, SOS1...
43 KB (995 words) - 17:13, 17 July 2025
phosphate) T-protein (GCST or AMT) EC 2.1.2.10 aminomethyltransferase H-protein (GCSH) is modified with lipoic acid and interacts with all other components in...
12 KB (1,267 words) - 14:40, 13 July 2025
HGNC:16099 Q6ZNI0 6137 GCSAM HGNC:20253 Q8N6F7 6138 GCSAML HGNC:29583 Q5JQS6 6139 GCSH HGNC:4208 P23434 6140 GDA HGNC:4212 Q9Y2T3 6141 GDAP1 HGNC:15968 Q8TB36 6142...
277 KB (17 words) - 09:51, 23 June 2025
member of the German Council of Science and Humanities (GCSH) and was elected as chair of the GCSH research commission in 2008. In 2005, Beisiegel was appointed...
8 KB (788 words) - 20:44, 3 January 2025
accounting for 70%-75% of disease), AMT (accounting for ~20% of disease), and GCSH (encoding the H-protein component of the GCS complex and accounting for <1%...
11 KB (1,383 words) - 02:27, 2 May 2025
307030; GK Glycine encephalopathy; 605899; AMT Glycine encephalopathy; 605899; GCSH Glycine encephalopathy; 605899; GLDC Glycine N-methyltransferase deficiency;...
234 KB (18,877 words) - 18:07, 24 March 2025
PMID 11286506. Kure S, Kojima K, Ichinohe A, et al. (2002). "Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia". Ann. Neurol. 52 (5):...
10 KB (1,243 words) - 05:56, 19 July 2025