Cytochrome c oxidase assembly factor 3, also known as Coiled-coil domain-containing protein 56, or Mitochondrial
translation regulation assembly intermediate of
cytochrome c oxidase protein of 12 kDa is a
protein that in humans is encoded by the COA3
gene. This gene encodes a member of the
cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to
mitochondria and is essential for
cytochrome c oxidase function.[5][6][7]
Structure
The COA3 gene is located on the
q arm of
chromosome 17 at position 21.2 and it spans 1,107 base pairs.[7] The COA3 gene produces a 7.8 kDa protein composed of 71
amino acids.[8][9] COA3 is a component of the enzyme MITRAC (mitochondrial
translation regulation assembly intermediate of
cytochrome c oxidase complex) complex, and the structure contains a
C-terminal coiled-coil domain as well as a central single pass transmembrane domain.[10]
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Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J (March 2015). "Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature". Journal of Medical Genetics. 52 (3): 203–7.
doi:
10.1136/jmedgenet-2014-102914.
PMID25604084.
S2CID43018915.
Cytochrome c oxidase assembly factor 3, also known as Coiled-coil domain-containing protein 56, or Mitochondrial
translation regulation assembly intermediate of
cytochrome c oxidase protein of 12 kDa is a
protein that in humans is encoded by the COA3
gene. This gene encodes a member of the
cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to
mitochondria and is essential for
cytochrome c oxidase function.[5][6][7]
Structure
The COA3 gene is located on the
q arm of
chromosome 17 at position 21.2 and it spans 1,107 base pairs.[7] The COA3 gene produces a 7.8 kDa protein composed of 71
amino acids.[8][9] COA3 is a component of the enzyme MITRAC (mitochondrial
translation regulation assembly intermediate of
cytochrome c oxidase complex) complex, and the structure contains a
C-terminal coiled-coil domain as well as a central single pass transmembrane domain.[10]
^
abc
Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J (March 2015). "Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature". Journal of Medical Genetics. 52 (3): 203–7.
doi:
10.1136/jmedgenet-2014-102914.
PMID25604084.
S2CID43018915.