LIPT2 (lipoyl(octanoyl) transferase 2)

2014-11-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 387787
MIM: 617659
HGNC: 37216
Ensembl: ENSG00000175536

Variants:

dbSNP: 387787
ClinVar: 387787
TCGA: ENSG00000175536
COSMIC: LIPT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175536ENST00000310109A6NK58
ENSG00000175536ENST00000527115H0YC96
ENSG00000175536ENST00000528085H0YD50

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Lipoic acid metabolismKEGGko00785
Lipoic acid metabolismKEGGhsa00785
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
287572032017Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.0

Citation

Dessen P

LIPT2 (lipoyl(octanoyl) transferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/66122/lipt2