L-2-Hydroxyglutarate Dehydrogenase

Alternative Names

L2HGDH
Duranin
C14ORF160

Length

74,986 bases

No. of Exons

No. of isoforms

Protein Name

L-2-hydroxyglutarate dehydrogenase, mitochondrial

Molecular Mass

50316Da

Amino Acid Count

463

Genomic Location

chr14:50,237,563-50,312,548

Gene Map Locus

14q21.3

Description

The L2HGDH gene encodes L-2-hydroxyglutarate dehydrogenase, an enzyme involved in the oxidation of L-2-hydroxyglutarate to alpha-ketoglutarate. Mutations in the L2HGDH gene results in deficiency of functional L-2-hydroxyglutarate dehydrogenase enzyme. This can lead to an excess accumulation of L-2-hydroxyglutarate in the blood causing L-2-Hydroxyglutaric Aciduria.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_024884.2:c.1015delA	Saudi Arabia	NC_000014.9:g.50267802del	Pathogenic	Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.49428del; NM_024884.2:c.1015delA; NP_079160.1:p.Arg339AspfsTer13	1555328749	435701
NM_024884.2:c.1115delT	Lebanon	NC_000014.9:g.50265439del	Pathogenic	Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.51791del; NM_024884.2:c.1115delT; NP_079160.1:p.Met372SerfsTer11	786200869	1608
NM_024884.2:c.1319C>A	Saudi Arabia	NC_000014.9:g.50247131G>T		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.70099C>A; NM_024884.2:c.1319C>A; NP_079160.1:p.Ser440Tyr
NM_024884.2:c.164G>A	Lebanon	NC_000014.9:g.50302994C>T	Pathogenic	Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.14236G>A; NM_024884.2:c.164G>A; NP_079160.1:p.Gly55Asp	118204021	1610
NM_024884.2:c.467G>T	Saudi Arabia	NC_000014.9:g.50294188C>A		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.23042G>T; NM_024884.2:c.467G>T; NP_079160.1:p.Gly156Val
NM_024884.3:c.241A>G	Tunisia	chr14:50302917		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.14313A>G; NM_024884.3:c.241A>G ; NP_079160.1:p.Lys81Glu	970541687
NM_024884.3:c.528G>T	Lebanon	NC_000014.9:g.50294127C>A	Likely Pathogenic	Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	NG_008092.1:g.23103G>T; NM_024884.3:c.528G>T; NP_079160.1:p.Glu176Asp		870857

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=L2HGDH https://ghr.nlm.nih.gov/gene/L2HGDH

Contributors

Pratibha Nair: 05.02.2020
Nada Assaf: 25.07.2016

Edit History

Pratibha Nair: 05.02.2020
Asha Deepthi: 29.11.2018
Sami Bizzari: 25.07.2016

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