LIAS Chromosome 4

Lipoic acid synthetase
41 variants 41 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Radical S-adenosylmethionine domain containing
Locus Type
gene with protein product
Location
4p14
Ensembl
ENSG00000121897
Associated Conditions (3)
Lipoic acid synthetase deficiency
Inborn genetic diseases
LIAS-related disorder
Key Variants
RS1057524792
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
Health Risk
RS1064793165
Conflicting classifications of pathogenicity
Health Risk
RS139360916
Conflicting classifications of pathogenicity
LIAS-related disorder, LIAS-related disorder
Health Risk
RS141723499
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
Health Risk
RS144133667
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
Health Risk
RS145535775
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
Health Risk
RS147516123
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
Health Risk
RS1560674852
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
Health Risk
RS368453789
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
Health Risk
RS374449188
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
Health Risk
RS538035764
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
Health Risk
RS764526355
Conflicting classifications of pathogenicity
Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
Health Risk
All Variants (41)
RSID Category Clinical Significance Conditions
RS1057524792 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
RS1064793165 Health Risk Conflicting classifications of pathogenicity —
RS139360916 Health Risk Conflicting classifications of pathogenicity LIAS-related disorder, LIAS-related disorder
RS141723499 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
RS144133667 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS145535775 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS147516123 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
RS1560674852 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS368453789 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
RS374449188 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
RS538035764 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS764526355 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases, Lipoic acid synthetase deficiency
RS773069554 Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1362202777 Health Risk Likely pathogenic —
RS1560669563 Health Risk Likely pathogenic —
RS1744715983 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744806313 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1745058899 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS201155530 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS546751789 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS779113995 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS961150638 Health Risk Likely pathogenic —
RS965952835 Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1355425067 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1417695501 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1553934069 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1553934199 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744706299 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744708369 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1744807781 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS2109887859 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS2474990397 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS2474996811 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS748571616 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS758718496 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS760569998 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS796052703 Health Risk Pathogenic —
RS869320760 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS960319940 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS997841253 Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS764858363 Health Risk Pathogenic/Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
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