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HLCS (holocarboxylase synthetase (biotin-(proprio...)))
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Curator:
Johan T. den Dunnen
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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
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HGNC
HGNC:4976
Entrez Gene
3141
PubMed articles
HLCS
OMIM - Gene
609018
OMIM - Diseases
holocarboxylase synthetase deficiency
Active transcripts
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ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
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
-
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