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NDUFAF5

Synonyms
C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
External resources
Summary
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
1
VUS
1,903
Likely benign
841
Benign
446

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on NDUFAF5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.3%
Abnormality of head or neck
37.5%
Abnormality of the musculoskeletal system
37.5%
Growth abnormality
31.3%
Abnormality of the ear
18.8%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of limbs
12.5%
Abnormality of the eye
12.5%
Abnormality of the integument
12.5%
Abnormality of the immune system
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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