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NDUFA6 - NADH:ubiquinone oxidoreductase subunit A6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4700

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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09132	NDUFA6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	NDUFA6	NCBI