NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

Homo sapiens

Also known as B17.2; DAP13; MC1DN23

Gene ID: 55967 | Gene type: protein coding

About NDUFA12

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:94,971,333-95,003,697 (from NCBI)

This gene has 13 transcripts (splice variants), 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues.

Summary

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

NDUFA12 Products(2)

mRNA	Protein	Name
NM_001258338.2	NP_001245267.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform b
NM_018838.5	NP_061326.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform a

NDUFA12 Protein Structure

NDUFA12

0
100
145 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

13 kDa differentiation-associated protein

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 23

MC1DN23	Mitochondrial Complex 1 Deficiency, Nuclear Type 23
Nuclear Type Mitochondrial Complex I Deficiency 23

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Placenta Praevia

Placenta Previa	Haemorrhage From Placenta Previa
Placenta Previa Haemorrhage	Lateral Placenta
Low Implantation Of Placenta Nos Or With Haemorrhage	Total Placenta Previa
Total Placenta Praevia Nos Or With Haemorrhage	Placental Previa Haemorrhage
Pp - [Placenta Previa]	Placenta Previa Marginalis
Placenta Previa Partialis	Partial Placenta Previa
Placenta Previa Centralis	Low Implantation Of Placenta
Low Implantation Or Insertion Of Placenta	Low Insertion Of Placenta
Low Lying Placenta	Marginal Placenta
Marginal Placenta Praevia Nos Or With Haemorrhage	Marginal Placenta Previa
Marginal Placental Haemorrhage	Partial Placenta Praevia Nos Or With Haemorrhage

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity	Retinal Hemorrhage With Vascular Tortuosity
RATOR	Tortuosity Of Retinal Arteries
Retinal Arteriolar Tortuosity	Familial Isolated Retinal Arterial Tortuosity
Tortuosity, Arteries, Retinal

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-RS09125	NDUFA12 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFA12	VGNC	VGNC:31945
Rattus norvegicus	NDUFA12	RGD	RGD:1311462
Canis familiaris	NDUFA12	VGNC	VGNC:43685
Mus musculus	NDUFA12	MGD	MGI:1913664

Name
Email *

	Sorry, but the email address you supplied was invalid.