Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c OXIDASE SUBUNIT I

Synonyms

COILED-COIL DOMAIN-CONTAINING PROTEIN 44

ID

http://purl.bioontology.org/ontology/OMIM/612958

altLabel

COILED-COIL DOMAIN-CONTAINING PROTEIN 44

CCDC44

TACO1

MITOCHONDRIAL COMPLEX IV DEFICIENCY

TRANSLATIONAL ACTIVATOR OF COX I

TRANSLATIONAL ACTIVATOR OF MTCO1

cui

C0268237

C1824568

Gene Locus

17q22-q24.2

Gene Symbol

CCDC44

TACO1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/612958.0002

http://purl.bioontology.org/ontology/OMIM/612958.0001

MIMTYPEMEANING

Gene with known sequence

notation

612958

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c OXIDASE SUBUNIT I

tui

T028

T019

T047

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http://purl.bioontology.org/ontology/MESH/D030401 Medical Subject Headings CUI