NDUFC2 - NADH:ubiquinone oxidoreductase subunit C2 Gene

Homo sapiens

Also known as HLC-1; B14.5b; MC1DN36; NADHDH2; CI-B14.5b

Gene ID: 4718 | Gene type: protein coding

About NDUFC2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:78,068,297-78,079,862 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues.

Summary

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022]

NDUFC2 Products(3)

mRNA	Protein	Name
NM_001204054.3	NP_001190983.1	NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 2
NM_001204055.2	NP_001190984.1	NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3
NM_004549.6	NP_004540.1	NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 1

NDUFC2 Protein Structure

NDUF_C2

0
100
119 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 subunit C2

NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 36

MC1DN36

Mitochondrial Complex 1 Deficiency, Nuclear Type 36

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn	Mitochondrial Complex I Deficiency, Nuclear Type
Mitochondrial Complex I Deficiency, Nuclear

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

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

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09156	NDUFC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NDUFC2	RGD	RGD:1307511
Mus musculus	NDUFC2	MGD	MGI:1344370

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