| LIAS | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LIAS , LAS, LIP1, LS, PDHLD, HUSSY-01, HGCLAS, lipoic acid synthetase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607031 MGI: 1934604 HomoloGene: 4997 GeneCards: LIAS | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Lipoic acid synthetase is a protein that in humans is encoded by the LIAS gene. [5]
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008].
Glycine decarboxylase also known as glycine cleavage system P protein or glycine dehydrogenase is an enzyme that in humans is encoded by the GLDC gene.
Glycine—tRNA ligase also known as glycyl–tRNA synthetase is an enzyme that in humans is encoded by the GARS1 gene.
Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.
Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.
MTHFD1 is a gene located in humans on chromosome 14 that encodes for a protein with three distinct enzymatic activities. C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase is an enzyme that in humans is encoded by the MTHFD1 gene.
2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.
Probable leucyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the LARS2 gene.
Glycine cleavage system H protein, mitochondrial is a protein that in humans is encoded by the GCSH gene. Degradation of glycine is brought about by the glycine cleavage system (GCS), which is composed of 4 protein components: P protein, H protein, T protein, and L protein. The H protein shuttles the methylamine group of glycine from the P protein to the T protein. The protein encoded by GCSH gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.
Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene on chromosome X.
Elongation factor Ts, mitochondrial is a protein that in humans is encoded by the TSFM gene. It is an EF-Ts homolog.
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.
Glutaredoxin 5, also known as GLRX5, is a protein which in humans is encoded by the GLRX5 gene located on chromosome 14. This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron- sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia.
Monofunctional C1-tetrahydrofolate synthase, mitochondrial also known as formyltetrahydrofolate synthetase, is an enzyme that in humans is encoded by the MTHFD1L gene.
Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the AARS2 gene.
Monocarboxylate transporter 9 is a protein that in humans is encoded by the SLC16A9 gene.
Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene.
NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain. Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
