The HLCS gene homepage

General information
Gene symbol HLCS
Gene name holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Chromosome 21
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_016193.1
Transcript reference NM_000411.6, NM_001242784.1, NM_001242785.1, XM_005260953.2, XM_005260954.1, XM_005260955.2, XM_005260956.2
Associated with diseases ID, holocarboxylase synthetase deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 97
Unique public DNA variants reported 13
Individuals with public variants 35
Hidden variants 126
Date created November 30, -0001
Date last updated September 28, 2016
Version HLCS:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:4976
Entrez Gene 3141
PubMed articles HLCS
OMIM - Gene 609018
OMIM - Diseases holocarboxylase synthetase deficiency


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012006 21 transcript variant 1 NM_000411.6 NP_000402.3 97
00012007 21 transcript variant 2 NM_001242785.1 NP_001229714.1 97
00012008 21 transcript variant 3 NM_001242784.1 NP_001229713.1 97
00042214 21 transcript variant X3 XM_005260955.2 XP_005261012.1 -
00042215 21 transcript variant X2 XM_005260954.1 XP_005261011.1 -
00042216 21 transcript variant X4 XM_005260956.2 XP_005261013.1 -
00042217 21 transcript variant X1 XM_005260953.2 XP_005261010.1 -