NDUFAF1

NDUFAF1
Identifiers
Aliases	NDUFAF1, CGI65, CIA30, CGI-65, NADH:ubiquinone oxidoreductase complex assembly factor 1, MC1DN11
External IDs	OMIM: 606934; MGI: 1916952; HomoloGene: 32289; GeneCards: NDUFAF1; OMA:NDUFAF1 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	41,409,403 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	119,493,308 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; gastrocnemius muscle; ; muscle of thigh; ; right adrenal gland; ; right adrenal cortex; ; right ventricle; ; left adrenal gland; ; left ventricle; ; left adrenal cortex; ; sperm;
	Top expressed in
	digastric muscle; ; sternocleidomastoid muscle; ; temporal muscle; ; saccule; ; soleus muscle; ; myocardium of ventricle; ; interventricular septum; ; otic vesicle; ; vastus lateralis muscle; ; triceps brachii muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	unfolded protein binding; protein binding;
Cellular component	mitochondrial inner membrane; mitochondrial respiratory chain complex I; mitochondrion; cytosol; mitochondrial matrix;
Biological process	mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I assembly; protein-containing complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	51103
	69702
	ENSG00000137806
	ENSMUSG00000027305
	Q9Y375
	Q9CWX2
	NM_016013
	NM_027175; NM_001356467
	NP_057097
NP_081451; NP_001343396; NP_001393427; NP_001393428; NP_001393429;
	NP_001393430; NP_001393431; NP_001393432
	Wikidata
View/Edit Human	View/Edit Mouse

Complex I intermediate-associated protein 30, mitochondrial (CIA30), or NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 (NDUFAF1), is a protein that in humans is encoded by the NDUFAF1 or CIA30 gene. The NDUFAF1 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I. The NDUFAF1 protein is an assembly factor of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variants of the NDUFAF1 gene are associated with hypertrophic cardiomyopathy, leukodystrophy, and cardioencephalomyopathy.