SURF1
Chr 9ARSURF1 cytochrome c oxidase assembly factor
Also known as: CMT4K, MC4DN1, SHY1
The SURF1 protein localizes to the inner mitochondrial membrane and is involved in the biogenesis of cytochrome c oxidase (complex IV). Mutations cause autosomal recessive mitochondrial complex IV deficiency leading to Leigh syndrome and Charcot-Marie-Tooth disease type 4K through loss of function. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern where biallelic mutations are required for disease.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 39 | 4 | 13 | 1 | 57 |
Likely Pathogenic | 30 | 13 | 4 | 0 | 47 |
VUS | 3 | 105 | 12 | 1 | 121 |
Likely Benign | 0 | 0 | 124 | 135 | 259 |
Benign | 0 | 0 | 2 | 0 | 2 |
Conflicting | — | 5 | |||
| Total | 72 | 122 | 155 | 137 | 491 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SURF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools