KEGG VARIANT: 388753v1

VARIANT: 388753v1

Entry

388753v1                      Variant

Name

COA6 mutation

Gene

COA6 cytochrome c oxidase assembly factor 6 [KO:K18179]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 614772

Network

nt06529 Thermogenesis

Disease

H01368

Cytochrome c oxidase (COX) deficiency

Reference

PMID:25339201

Authors

Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ

Title

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Journal

Hum Mutat 36:34-8 (2015)
DOI:10.1002/humu.22715

LinkDB

VARIANT: 28958v1

Entry

28958v1                      Variant

Name

COA3 mutation

Gene

COA3 cytochrome c oxidase assembly factor 3 [KO:K18175]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 614775

Network

nt06529 Thermogenesis

Disease

H01368

Cytochrome c oxidase (COX) deficiency

Reference

PMID:25604084

Authors

Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M, Wibrand F, Shoubridge EA, Vissing J

Title

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

Journal

J Med Genet 52:203-7 (2015)
DOI:10.1136/jmedgenet-2014-102914

LinkDB

DBGET integrated database retrieval system