NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)

2014-08-01 Affiliation

Identity

HGNC

NDUFAF6

LOCATION

8q22.1

LOCUSID

137682

ALIAS

C8orf38,FRTS5,MC1DN17

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 137682
MIM: 612392
HGNC: 28625
Ensembl: ENSG00000156170

Variants:

dbSNP: 137682
ClinVar: 137682
TCGA: ENSG00000156170
COSMIC: NDUFAF6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000156170	ENST00000396111	A0A075B6P0
ENSG00000156170	ENST00000396113	A0A075B6P0
ENSG00000156170	ENST00000396124	Q330K2
ENSG00000156170	ENST00000454358	H7C250
ENSG00000156170	ENST00000517976	H0YBQ9
ENSG00000156170	ENST00000518258	Q330K2
ENSG00000156170	ENST00000518608	H0YB05
ENSG00000156170	ENST00000519136	E5RHX9
ENSG00000156170	ENST00000519804	E5RGD6
ENSG00000156170	ENST00000520632	H0YB46
ENSG00000156170	ENST00000520757	H0YBT9
ENSG00000156170	ENST00000522683	H0YC61
ENSG00000156170	ENST00000523337	Q330K2
ENSG00000156170	ENST00000523378	E5RFN5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105
Complex I biogenesis	REACTOME	R-HSA-6799198

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38720117	2024	Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.	0
38720117	2024	Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.	0
35237031	2022	Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study.	0
35237031	2022	Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study.	0
30642748	2019	Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.	11
30642748	2019	Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.	11
28476317	2017	Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I).	7
28476317	2017	Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I).	7
27466185	2016	Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.	30
27623250	2016	Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.	9
27466185	2016	Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.	30
27623250	2016	Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.	9
23509070	2013	The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.	39
23509070	2013	The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.	39
22019594	2011	Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.	25

Citation

Dessen P

NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54494/gene-explorer/gene-fusions/deep-insight-explorer/case-report-explorer/