GCSH gene homepage

General information
Gene symbol GCSH
Gene name glycine cleavage system protein H (aminomethyl carrier)
Chromosome 16
Chromosomal band q23.2
Imprinted Unknown
Genomic reference NG_016427.1
Transcript reference NM_004483.4
Exon/intron information NM_004483.4 exon/intron table
Associated with diseases GCE, ID
Citation reference(s) Koyata et al. 1991
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 23
Unique public DNA variants reported 18
Individuals with public variants 3
Hidden variants 3
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created August 30, 2012
Date last updated May 05, 2017
Version GCSH:170505

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004483.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/GCSH
External URL Finnish Disease Database (Findis)
See also AMT mutations
See also GLDC mutations
HGNC 4208
Entrez Gene 2653
PubMed articles GCSH
OMIM - Gene 238330
OMIM - Diseases GCE (encephalopathy, glycine (GCE))
GeneCards GCSH
GeneTests GCSH

Active transcripts




NCBI ID     

NCBI Protein ID     

00000281 16 transcript variant 1 NM_004483.4 NP_004474.2 23

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.