1. Gene
  2. NDUFA6 - NADH:ubiquinone oxidoreductase subunit A6 Gene

NDUFA6 - NADH:ubiquinone oxidoreductase subunit A6 Gene

Homo sapiens

Also known as B14; LYRM6; CI-B14; MC1DN33; NADHB14

Gene ID: 4700 | Gene type: protein coding

About NDUFA6

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,085,526-42,090,772 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 63.4), kidney (RPKM 42.5) and 25 other tissues.

Summary

This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest Enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]

NDUFA6 Products(1)

mRNA Protein Name
NM_002490.6 NP_002481.3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6

NDUFA6 Protein Structure

Complex1_LYR

Complex1_LYR: Complex 1 protein (LYR family) (56 - 117)

  • 0
  • 100
  • 154 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6

Complex I-B14

Related Diseases

Diseases Alias
Mitochondrial Complex I Deficiency, Nuclear Type 33

MC1DN33

Nuclear Type Mitochondrial Complex I Deficiency 33

Mitochondrial Complex 1 Deficiency, Nuclear Type 33

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Atrial Tachyarrhythmia With Short Pr Interval

Lown-Ganong-Levine Syndrome

Syndrome Of Short P-R Interval, Normal Qrs Complexes, And Supraventricular Tachycardias

Lgl Syndrome

Pharyngoconjunctival Fever

Pharyngo-Conjunctival Fever

Adenoviral Pharyngoconjunctivitis

Adenovirus Infections, Human

Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc

Korean Hemorrhagic Fever

Hemorrhagic Fever With Renal Syndrome

Conjunctival Folliculosis

Acute Follicular Conjunctivitis

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

Acute Flaccid Myelitis
Leukodystrophy

Leukodystrophies

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

Myopathy

Muscular Diseases

Myopathies

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

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
Canis familiaris NDUFA6 VGNC VGNC:43689
Felis catus NDUFA6 VGNC VGNC:68438
Bos taurus NDUFA6 VGNC VGNC:31950
Mus musculus NDUFA6 MGD MGI:1914380
Macaca mulatta NDUFA6 VGNC VGNC:75154
Rattus norvegicus NDUFA6 RGD RGD:1309818