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NDUFS1

Synonyms
CI-75Kd, CI-75k, MC1DN5, PRO1304
External resources
Summary
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several 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
34
Likely pathogenic
0
VUS
8,142
Likely benign
5,158
Benign
495

Patient phenotypes

Proportions of phenotypes among 32 patients carrying pathogenic or likely pathogenic variants on NDUFS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.6%
Abnormality of the cardiovascular system
28.1%
Abnormality of the eye
18.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of head or neck
9.4%
Abnormality of the genitourinary system
9.4%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the ear
6.3%
Growth abnormality
6.3%
Abnormality of the digestive system
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the integument
3.1%
Abnormality of the respiratory system
3.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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