Property Summary

NCBI Gene PubMed Count 11
Grant Count 70
R01 Count 35
Funding $11,348,281.02
PubMed Score 575.95
PubTator Score 31.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
interstitial cystitis -1.200 0.002
ovarian cancer -1.400 0.000

Synonym

Accession O43766 A8K873 C9JCF6 Q8IV62
Symbols LS
LAS
LIP1
PDHLD
HGCLAS
HUSSY-01

Gene

Gene RIF (5)

PMID Text
26108146 heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS.
24334290 Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement.
22152680 We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine
20877624 Observational study of gene-disease association. (HuGE Navigator)
19074983 Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction.

AA Sequence

MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQK      1 - 70
GERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRG     71 - 140
CRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVE    141 - 210
CLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIML    211 - 280
GLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVR    281 - 350
SSYKAGEFFLKNLVAKRKTKDL                                                    351 - 372
//

Text Mined References (13)

PMID Year Title
26108146 2015 Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
24334290 2014 Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
22152680 2011 Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19074983 2009 Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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