1. Gene
  2. TACO1 - translational activator of cytochrome c oxidase I Gene

TACO1 - translational activator of cytochrome c oxidase I Gene

Homo sapiens

Also known as CCDC44; MC4DN8

Gene ID: 51204 | Gene type: protein coding

About TACO1

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,600,895-63,608,365 (from NCBI)

This gene has 4 transcripts (splice variants), 190 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 17.5), liver (RPKM 13.0) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

TACO1 Products(1)

mRNA Protein Name
NM_016360.4 NP_057444.2 translational activator of cytochrome c oxidase 1

TACO1 Protein Structure

Transcrip_reg

Transcrip_reg: Transcriptional regulator (61 - 297)

  • 0
  • 100
  • 200
  • 297 a.a.
Protein Preferred Names Protein Names

translational activator of cytochrome c oxidase 1

clone HQ0477 PRO0477p

Related Diseases

Diseases Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 8

MC4DN8

Mitochondrial Complex 4 Deficiency, Nuclear Type 8

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k

CMT4K

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Charcot-Marie-Tooth Disease 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Charcot-Marie-Tooth Disease, Axonal, Type 2ee

CMT2EE

Charcot-Marie-Tooth Neuropathy, Type 2ee

Charcot-Marie-Tooth Disease Type 2ee

Charcot-Marie-Tooth Disease, Axonal, 2ee

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type

Mitochondrial Complex V Deficiency Nuclear Type 4

Cytochrome C Oxidase Deficiency, French Canadian Type

Lsfc

Cox Deficiency, French Canadian Type

MC5DN4

MC4DN5

Cox Deficiency, Saguenay-Lac-Saint-Jean Type

Leigh Syndrome, Saguenay-Lac-Saint-Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

French Canadian Leigh Disease

Leigh Syndrome, French-Canadian Type

Leigh Syndrome , French Canadian Type

Mitochondrial Complex V Deficiency, Atp5a1 Type

French Canadian Type Cox Deficiency

French Canadian Type Cytochrome C Oxidase Deficiency

French Canadian Type Leigh Syndrome

Saguenay Lac Saint Jean Type Cox Deficiency

Saguenay Lac Saint Jean Type Leigh Syndrome

Cox Deficiency, Saguenay Lac Saint Jean Type

Leigh Syndrome, Saguenay Lac Saint Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

Mitochondrial Complex V Deficiency Atp5a1 Type

Mitochondrial Complex V Deficiency Type 4

Mitochondrial Complex V Deficiency, Nuclear, Type 4

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

Fatal Infantile Cox Deficiency

Fatal Infantile Cytochrome C Oxidase Deficiency

Fatal Infantile Encephalocardiomyopathy

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta TACO1 VGNC VGNC:104661
Mus musculus TACO1 MGD MGI:1917457
Bos taurus TACO1 VGNC VGNC:35559
Canis familiaris TACO1 VGNC VGNC:47065
Rattus norvegicus TACO1 RGD RGD:1306784
Felis catus TACO1 VGNC VGNC:99554