Chromosome 19 open reading frame 70, also known as QIL1, MICOS complex subunit MIC13 (MIC13) or Protein P117 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''C19orf70''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Structure

The ''C19orf70'' gene is located on the p arm of

chromosome 19 Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 61.7 million base pairs, the building material of DNA. It is considered the most Gene density, gene-ri ...

at position 13.3 and it spans 2,482 base pairs. The ''C19orf70'' gene produces a 9.7 kDa protein composed of 88

amino acids Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the Proteinogenic amino acid, 22 α-amino acids incorporated into p ...

Function

The ''C19orf70'' gene encodes for a subunit of the MICOS (

mitochondrial A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used ...

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 A crista (; : cristae) is a fold in the inner mitochondrial membrane, inner membrane of a mitochondrion. The name is from the Latin for ''crest'' or ''plume'', and it gives the inner membrane its characteristic wrinkled shape, providing a large a ...

junctions, formation of contact junctions to the outer membrane, and the dynamic regulation of

membrane architecture. C19orf70, a component of the mature MICOS complex, localizes to the

inner mitochondrial membrane The inner mitochondrial membrane (IMM) is the mitochondrial membrane which separates the mitochondrial matrix from the intermembrane space. Structure The structure of the inner mitochondrial membrane is extensively folded and compartmentalized. T ...

at the

e 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.

Clinical Significance

Mutations in ''C19orf70'' has been shown to result in mitochondrial deficiencies and related disorders caused by the disassembly of MICOS complex with abnormal

e morphology and failure of mitochondrial respiration. Major clinical manifestations have included mitochondrial hepato-encephalopathy and 3-methylglutaconic aciduria accompanied by severe

psychomotor retardation Psychomotor retardation involves a slowing down of thought and a reduction of physical movements in an individual. It can cause a visible slowing of physical and emotional reactions, including speech and affect. Psychomotor retardation is most ...

, intractable

seizures A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, o ...

, cerebellar atrophy, early death, Lactic acidemia,

neutropenia Neutropenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood. Neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria ...

, and elevated liver transaminases.

Interactions

C19orf70 has been known to interact with MRPL24, APOOL, STOML2,

IMMT Mitochondrial inner membrane protein is a protein that in humans is encoded by the ''IMMT'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in ...

, MTX1, CHCHD3, and other proteins.

Structure

Function

Clinical Significance

Interactions

References

Further reading