Holocarboxylase Synthetase

Alternative Names

HLCS
HCS

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Length

241,587 bases

No. of Exons

No. of isoforms

Protein Name

Biotin--protein ligase

Molecular Mass

80760 Da

Amino Acid Count

726

Genomic Location

chr21:36,748,625-36,990,211

Gene Map Locus

21q22.13

Description

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001352514.2:c.1963C>T	Qatar	NC_000021.9:g.36765170G>A	Pathogenic	Pathogenic		NG_016193.2:g.230225C>T; NM_001352514.2:c.1963C>T; NP_001339443.1:p.Arg655Trp	119103229	1909
NM_001352514.2:c.2434C>T	Qatar	NC_000021.9:g.36756558G>A	Likely Pathogenic, Pathogenic	Pathogenic		NG_016193.2:g.238837C>T; NM_001352514.2:c.2434C>T; NP_001339443.1:p.Arg812Ter	146448211	203770

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External Links

https://medlineplus.gov/genetics/gene/hlcs/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=HLCS

Contributors

Sayeeda Hana: 15.12.2024

Edit History

Sayeeda Hana: 15.12.2024