MICOS13
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
MICOS complex subunit MIC13, is a protein that in humans is encoded by the MICOS13 gene (previously C19orf70).[5][6] The MICOS13 protein is part of the MICOS complex, a mitochondrial protein complex which is involved in formation and maintenance of crista junctions.[6]
| MICOS13 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | MICOS13, P117, QIL1, MIC13, chromosome 19 open reading frame 70, mitochondrial contact site and cristae organizing system subunit 13, C19orf70, MIC12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616658; MGI: 2442174; GeneCards: MICOS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Structure
The MICOS13 gene is located on the p arm of chromosome 19 at position 13.3 and it spans 2,482 base pairs.[5] The MICOS13 gene produces a 9.7 kDa protein composed of 88 amino acids.[7][8]
Function
The MICOS13 gene encodes for a subunit of the MICOS (mitochondrial contact site and cristae junction organizing system) complex of the mitochondrial inner membrane. The 700-kD complex plays diverse roles such as the maintenance of crista junctions, formation of contact junctions to the outer membrane, and the dynamic regulation of mitochondrial membrane architecture. MICOS13, a component of the mature MICOS complex, localizes to the inner mitochondrial membrane at the cristae junctions and incorporates MINOS1 and MIC10 into the MICOS complex. The protein is necessary for the creation of the cristae junction, integrity of the cristae junction, and maintenance of cristae morphology. It is also essential for normal mitochondrial function.[9][6]
Clinical Significance
Mutations in MICOS13 has been shown to result in mitochondrial deficiencies and related disorders caused by the disassembly of MICOS complex with abnormal cristae morphology and failure of mitochondrial respiration. Major clinical manifestations have included mitochondrial hepato-encephalopathy and 3-methylglutaconic aciduria accompanied by severe psychomotor retardation, intractable seizures, cerebellar atrophy, early death, Lactic acidemia, neutropenia, and elevated liver transaminases.[10]