LIAS - lipoic acid synthetase Gene

Homo sapiens

Also known as LS; LAS; LIP1; PDHLD; HGCLAS; HUSSY-01

Gene ID: 11019 | Gene type: protein coding

About LIAS

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:39,459,056-39,479,506 (from NCBI)

This gene has 22 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.0) and 25 other tissues.

Summary

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]

LIAS Products(6)

mRNA	Protein	Name
NM_001278590.2	NP_001265519.1	lipoyl synthase, mitochondrial isoform 3 precursor
NM_001278591.2	NP_001265520.1	lipoyl synthase, mitochondrial isoform 4 precursor
NM_001278592.2	NP_001265521.1	lipoyl synthase, mitochondrial isoform 5 precursor
NM_001363700.2	NP_001350629.1	lipoyl synthase, mitochondrial isoform 6 precursor
NM_006859.4	NP_006850.2	lipoyl synthase, mitochondrial isoform 1 precursor
NM_194451.3	NP_919433.1	lipoyl synthase, mitochondrial isoform 2 precursor

LIAS Protein Structure

Radical_SAM

0
100
200
300
372 a.a.

Protein Preferred Names

Protein Names

lipoyl synthase, mitochondrial

lip-syn

Related Diseases

Diseases

Alias

Hyperglycinemia, Lactic Acidosis, And Seizures

Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency	Lipoic Acid Synthetase Deficiency
HGCLAS	Pdhld

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1	Mmds
Nfu1 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 1
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4	Multiple Mitochondrial Dysfunctions Syndrome Type 4
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3	Iba57 Deficiency
Multiple Mitochondrial Dysfunctions Syndrome Type 3	Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2	MMDS2
Bola3 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 2
Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunction Syndrome
Mmds	Multiple Mitochondrial Dysfunction Syndrome
Mitochondrial Dysfunctions, Multiple, Syndrome	Multiple Mitochondrial Dysfunctions Syndrome 1

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Ceroid Lipofuscinosis, Neuronal, 2

Jansky-Bielschowsky Disease	Neuronal Ceroid Lipofuscinosis 2
CLN2	Lincl
Cln2 Disease	Late-Infantile Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset	Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
Cln2 Disease, Juvenile	Cln2 Disease, Late Infantile
Late-Infantile Batten Disease	Neuronal Ceroid Lipofuscinosis, Late-Infantile
Classic Late Infantile Ncl	Classic Late Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset	Lipofuscinosis, Ceroid, Neuronal, Type 2
Late-Infantile Neuronal Ceroid Lipfuscinosis

Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria	Formiminotransferase Deficiency
FIGLU-URIA	Arakawa Syndrome 1
Formiminoglutamic Acidemia	Formiminotransferase Cyclodeaminase Deficiency
Formiminotransferase Deficiency Syndrome	Ftcd Deficiency
Formiminoglutamicaciduria	Figluria

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

Necrotizing Fasciitis

Fasciitis, Necrotizing

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07639	LIAS Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LIAS	RGD	RGD:1307270
Macaca mulatta	LIAS	VGNC	VGNC:74057
Felis catus	LIAS	VGNC	VGNC:63227
Canis familiaris	LIAS	VGNC	VGNC:42670
Bos taurus	LIAS	VGNC	VGNC:30879
Mus musculus	LIAS	MGD	MGI:1934604
Others	LIAS	NCBI