Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6834
MIM: 185620
HGNC: 11474
Ensembl: ENSG00000148290
Variants:
dbSNP: 6834
ClinVar: 6834
TCGA: ENSG00000148290
COSMIC: SURF1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000148290 | ENST00000371974 | Q15526 |
| ENSG00000148290 | ENST00000371974 | E5KRX5 |
| ENSG00000148290 | ENST00000615505 | A0A087WYS9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33771987 | 2021 | Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. | 49 |
| 33771987 | 2021 | Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. | 49 |
| 32380162 | 2020 | Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity. | 1 |
| 32380162 | 2020 | Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity. | 1 |
| 29481804 | 2018 | Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome. | 2 |
| 29715184 | 2018 | Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. | 6 |
| 29933018 | 2018 | SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. | 2 |
| 29481804 | 2018 | Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome. | 2 |
| 29715184 | 2018 | Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. | 6 |
| 29933018 | 2018 | SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. | 2 |
| 26804654 | 2016 | Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects. | 13 |
| 26804654 | 2016 | Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects. | 13 |
| 22729384 | 2013 | Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. | 9 |
| 24027061 | 2013 | SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. | 19 |
| 22729384 | 2013 | Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. | 9 |
Citation
Dessen P
SURF1 (SURF1 cytochrome c oxidase assembly factor)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46853/surf1
