Home > Gene Browser > NDUFAF7

NDUFAF7

Synonyms
C2orf56, MidA, PRO1853
External resources
Summary
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants.

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
10
Likely pathogenic
9
VUS
25,343
Likely benign
3,309
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on NDUFAF7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
26.3%
Abnormality of the musculoskeletal system
26.3%
Abnormality of the nervous system
26.3%
Abnormality of limbs
21.1%
Abnormality of the cardiovascular system
21.1%
Abnormality of the genitourinary system
15.8%
Neoplasm
15.8%
Abnormality of the digestive system
10.5%
Abnormality of the ear
10.5%
Abnormality of the eye
10.5%
Abnormality of the integument
10.5%
Abnormality of the respiratory system
10.5%
Growth abnormality
10.5%
Abnormality of the breast
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the immune system
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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