MICOS13 (mitochondrial contact site and cristae organizing system subunit 13)

2014-11-01  

Identity

HGNC
MICOS13
LOCATION
19p13.3
LOCUSID
125988
ALIAS
C19orf70,MIC12,MIC13,P117,QIL1

Other Information

Locus ID:

NCBI: 125988
MIM: 616658
HGNC: 33702
Ensembl: ENSG00000174917

Variants:

dbSNP: 125988
ClinVar: 125988
TCGA: ENSG00000174917
COSMIC: MICOS13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174917ENST00000309324Q5XKP0
ENSG00000174917ENST00000587589K7EIR2
ENSG00000174917ENST00000587950A0A140TA86
ENSG00000174917ENST00000590389A0A140TA84

References

Pubmed IDYearTitleCitations
259971012015QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.41
274796022016Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells.13
276231472016QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.9
274854092016Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.8

Citation

Dessen P

MICOS13 (mitochondrial contact site and cristae organizing system subunit 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61037/micos13