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NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

Also Known as B17.2; DAP13; MC1DN23

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55967

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial ATP synthesis coupled electron transport	IMP IMP: Inferred from mutant phenotype	24746669	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA
part of respiratory chain complex I	IMP IMP: Inferred from mutant phenotype	24746669	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09125	NDUFA12 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NDUFA12	NCBI