Home > Gene Browser > NDUFAF5

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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
1
VUS
1,009
Likely benign
2,903
Benign
229

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on NDUFAF5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
30%
Abnormality of the eye
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of limbs
10%
Abnormality of the ear
10%
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 immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes