NDUFA13

Chr 19AR

NADH:ubiquinone oxidoreductase subunit A13

Also known as: B16.6, CDA016, CGI-39, GRIM-19, GRIM19, MC1DN28

NCBI Gene: 51079ENSG00000186010UniProt: Q9P0J0

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]

Primary Disease Associations & Inheritance

{Thyroid carcinoma, Hurthle cell}MIM #607464
Mitochondrial complex I deficiency, nuclear type 28MIM #618249
AR
UniProtHurthle cell thyroid carcinoma
114
ClinVar variants
14
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— NDUFA13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 57 VUS of 114 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.77LOEUF
pLI 0.000
Z-score -0.15
OE 1.06 (0.62–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.90Z-score
OE missense 1.26 (1.09–1.47)
121 obs / 96.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.06 (0.62–1.77)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.26 (1.09–1.47)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.24
0≤1.21.6
LoF obs/exp: 8 / 7.5Missense obs/exp: 121 / 96.1Syn Z: -1.19

ClinVar Variant Classifications

114 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic3
VUS57
Likely Benign29
Benign4
Conflicting2
11
Pathogenic
3
Likely Pathogenic
57
VUS
29
Likely Benign
4
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
2
8
0
11
Likely Pathogenic
2
1
0
0
3
VUS
4
46
7
0
57
Likely Benign
0
0
12
17
29
Benign
0
1
2
1
4
Conflicting
—2
Total7502918106

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NDUFA13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

{Thyroid carcinoma, Hurthle cell}

MIM #607464

Molecular basis of disorder known

Mitochondrial complex I deficiency, nuclear type 28

MIM #618249

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Mitochondria-associated programmed cell death: elucidating prognostic biomarkers, immune checkpoints, and therapeutic avenues in multiple myeloma.
Gao G et al.·Front Immunol
2024
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.
Radenkovic S et al.·Cells
2025Case report
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Angebault C et al.·Hum Mol Genet
2015
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.
González-Quintana A et al.·Genes (Basel)
2020Case report
Identification of m(7)G regulator-mediated RNA methylation modification patterns and related immune microenvironment regulation characteristics in heart failure.
Ma C et al.·Clin Epigenetics
2023
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.
Li BG et al.·Neurogenetics
2024Case report
Prognostic Cell Death Index for Lung Adenocarcinoma: A Comprehensive Transcriptome-Based Analysis of Twelve Programmed Cell Death Pattern Genes.
Chen F et al.·Front Biosci (Landmark Ed)
2024
Identification of recurrence marker associated with immune infiltration in prostate cancer with radical resection and build prognostic nomogram.
Rui X et al.·BMC Cancer
2019
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools