SURF1 Antibody

1. SURF1 mutations may be associated with worse clinical outcome in Chinese patients with Leigh syndrome than other populations. PMID: 29933018
2. the MT-ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. PMID: 29481804
3. Mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth disease. PMID: 24027061
4. This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. PMID: 22729384
5. sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2 PMID: 22410471
6. Study identified 21 patients with clinical features of Leigh syndrome who are either homozygous or compound heterozygous for SURF1 mutations. PMID: 22488715
7. Analysis of fibroblast cell lines from 9 patients with SURF1 mutations revealed a 70% decrease of the COX complex content to be associated with 32-54% upregulation of respiratory chain complexes I, III and V and accumulation of Cox5a subunit. PMID: 22465034
8. Analysis of mutations in the SURF1 homolog Shy1 revealed Coa4, a new member of the cytochrome oxidase assembly factor family. PMID: 20624914
9. mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population. PMID: 20436434
10. Three novel mutations of the SURF-1 gene were identified in Japanese patients with cytochrome c oxidase deficiency; loss of function of the SURF-1 protein; cytochrome c oxidase activity was decreased to less than 20% of the control mean. PMID: 11955926
11. new missense mutation of 574C>T in the SURF1 gene in Leigh's syndrome PMID: 12515039
12. Two novel pathogenic SURF1 mutations have been identified in a patient with Leigh syndrome. PMID: 12538779
13. Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the brain. PMID: 12812953
14. Four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of Leigh Syndrome with cytochrome c oxidase deficiency PMID: 14557577
15. study points to a role for surfeit 1(SURF1) in promoting the association of cytochrome c oxidase II with the cytochrome c oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase subunit 5A subassembly PMID: 14607829
16. a SURF1 mutation may have a role in subacute encephalopathy PMID: 15214016
17. Surf1p plays a role in facilitating the insertion of heme a3 into the active site of cytochrome-c oxidase. PMID: 15764605
18. The consequences of SCO2 and SURF1 mutations suggest the existence of tissue-specific functional differences of these proteins that may serve different tissue-specific requirements for the regulation of COX biogenesis. PMID: 16083427
19. Histological and histochemical features of muscle of genetically homogenous SURF1-deficient LS were reproducible in detection of COX deficit. SURF1-deficient muscle assessed in the microscopy panel may be interpreted as normal if COX staining is not used. PMID: 17908801
20. Data show high prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. PMID: 18583168
21. SURF1-deficient samples analyzed showed a tissue-specific copper deficiency similar to that of SCO-deficient samples, suggesting a role for Surf1 in copper homeostasis regulation PMID: 19295170
22. a direct role of Surf1 in heme a cofactor insertion into COX subunit I by providing a protein-bound heme a pool. PMID: 19625251
23. The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients. PMID: 19780766

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HGNC: 11474

OMIM: 185620

KEGG: hsa:6834

STRING: 9606.ENSP00000361042

UniGene: Hs.512464