NDUFA13 Chromosome 19
NADH:ubiquinone oxidoreductase subunit A13
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What This Gene Does
This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000186010
Associated Conditions (6)
Mitochondrial complex I deficiency
nuclear type 28
Inborn genetic diseases
Hurthle cell carcinoma of thyroid
Melanoma
Decreased activity of mitochondrial complex I
Key Variants
RS183288709
Conflicting classifications of pathogenicity
Health Risk
RS773496318
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 28, Inborn genetic diseases
Health Risk
RS751852332
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 28, Hurthle cell carcinoma of thyroid
Health Risk
RS752513525
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 28, Mitochondrial complex I deficiency
Health Risk
RS779602473
Likely pathogenic
Hurthle cell carcinoma of thyroid, Mitochondrial complex I deficiency, nuclear type 28
Health Risk
RS137852869
Pathogenic
Hurthle cell carcinoma of thyroid, Hurthle cell carcinoma of thyroid
Health Risk
RS2061098856
Pathogenic
Decreased activity of mitochondrial complex I, Mitochondrial complex I deficiency, nuclear type 28
Health Risk
RS2061105702
Pathogenic
Decreased activity of mitochondrial complex I, Mitochondrial complex I deficiency, nuclear type 28
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS183288709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773496318 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 28, Inborn genetic diseases |
| RS751852332 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 28, Hurthle cell carcinoma of thyroid |
| RS752513525 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 28, Mitochondrial complex I deficiency |
| RS779602473 | Health Risk | Likely pathogenic | Hurthle cell carcinoma of thyroid, Mitochondrial complex I deficiency, nuclear type 28 |
| RS137852869 | Health Risk | Pathogenic | Hurthle cell carcinoma of thyroid, Hurthle cell carcinoma of thyroid |
| RS2061098856 | Health Risk | Pathogenic | Decreased activity of mitochondrial complex I, Mitochondrial complex I deficiency, nuclear type 28 |
| RS2061105702 | Health Risk | Pathogenic | Decreased activity of mitochondrial complex I, Mitochondrial complex I deficiency, nuclear type 28 |