NDUFAF1
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.
Q8054
protein
Concept
Q7187
gene
Concept
Q224180
homolog
Concept
Q133459
Neurospora crassa
Concept
Q22326958
complex I
Concept
Q22326958
NADH dehydrogenase (ubiquinone)
Concept
Q4896390
mitochondrial inner membrane
UNK
Q211016
electron transport chain
Concept
Q1364270
hypertrophic cardiomyopathy
Concept
Q1821559
leukodystrophy
Concept
Q18039999
NDUFAF1
MISC
Q18039999
NDUFAF1
MISC
Q18039999
NDUFAF1
MISC
Q18039999
NDUFAF1
MISC
Q18039999
NDUFAF1
MISC
+30^^http://www.w3.org/2001/XMLSchema#decimal
30
NUMBER
+30^^http://www.w3.org/2001/XMLSchema#decimal
30
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+30^^http://www.w3.org/2001/XMLSchema#decimal
30
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
instance of
encodes
instance of