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2653 GCSH

2653

GCSH

glycine cleavage system protein H

protein-coding

Homo sapiens

基因描述

Type Description
Definition glycine cleavage system protein H

研究结论

Date Results Publications
2019-11-09 11:54:00 GCSH protein is overexpressed in both, breast cancer tissue and breast cancer cell lines. A shorter (391 bp) transcript variant (Tv*) was amplified with an increased expression in healthy breast cells and a decreased expression in breast cancer samples. A GCSH-equilibrium at the transcript level is likely conceivable for optimal glycine degradation. 30337557
2015-08-29 11:27:00 Data indicate no mutation was found in glycine cleavage system protein-H (GCSH) and suggest that mutations in both glycine decarboxylase (GLDC) and aminomethyltransferase (AMT) are the main cause of glycine encephalopathy in Malaysian population. 25231368
2011-12-17 10:38:00 There is no detectable glycine cleavage enzyme activity in human skin fibroblasts. 21539457
2010-01-21 00:00:00 Heterozygous GCSH gene mutation in transient neonatal hyperglycinemia. 12402263
2010-01-21 00:00:00 Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system. 19299230

名称对应

Type IDs
Synonymous GCE, NKH
Gene
UniProtKB-ID: GCSH_HUMAN
UniprotKB: P23434
UniParc: UPI000013FAFB
EMBL: D00723, BC020922, AY310735, BC000790, AC092718, M69175
Ensembl: ENSG00000140905
KO: hsa:2653
Nucleutide sequences
EMBL-CDS: AAA36011.1, BAA00625.1, AAH00790.1, AAP50260.1, AAH20922.1
Ensembl_TRS: ENST00000315467
Protein sequencees
Ensembl_PRO: ENSP00000319531
RefSeq: NP_004474.2, XP_016878625.1, XP_016878626.1
Others
UniRef100: UniRef100_P23434
UniRef90: UniRef90_P23434
UniRef50: UniRef50_P23434
UniGene: Hs.546256
CCDS: CCDS10933.1

全选

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