Use your antibodies-online credentials, if available.
Mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth disease.
This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG (显示 POLG 蛋白) and SURF1 mutations.
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
Study identified 21 patients with clinical features of Leigh syndrome who are either homozygous or compound heterozygous for SURF1 mutations.
Analysis of fibroblast cell lines from 9 patients with SURF1 mutations revealed a 70% decrease of the COX (显示 COX8A 蛋白) complex content to be associated with 32-54% upregulation of respiratory chain complexes I, III and V and accumulation of Cox5a (显示 COX5A 蛋白) subunit.
Analysis of mutations in the SURF1 homolog Shy1 revealed Coa4, a new member of the cytochrome oxidase assembly factor family.
Three novel mutations of the SURF-1 gene were identified in Japanese patients with cytochrome c (显示 CYCS 蛋白) oxidase deficiency; loss of function of the SURF-1 protein; cytochrome c (显示 CYCS 蛋白) oxidase activity was decreased to less than 20% of the control mean.
new missense mutation of 574C>T in the SURF1 gene in Leigh's syndrome
Two novel pathogenic SURF1 mutations have been identified in a patient with Leigh syndrome.
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c (显示 CYCS 蛋白) oxidase (COX (显示 COX8A 蛋白))-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the brain.
These findings suggest that Surf1 deficiency-induced metabolic alterations may have positive effects on brain function.
The expression of peroxisome proliferator-activated receptor gamma-coactivator 1-alpha (PGC-1alpha) mRNA and protein was up-regulated in white adipose tissue from Surf1-/- mice, and the expression of PGC-1alpha target genes
Compared to wild type (WT) preparations Surf1 knockout preparations had a higher baseline respiratory frequency and abnormal responses to hypoxia and hypercapnia that involved both respiratory frequency and motor nerve discharge pattern.
murine Surf1 protein (Surf1p) has a function specifically related to cytochrome c (显示 CYCS 蛋白) oxidase
Prolonged lifespan and complete protection from Ca(2 (显示 CA2 蛋白)+)-dependent neurotoxicity induced by kainic acid in Surf-1 knockout mice.
This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency.
, surfeit 1
, surfeit locus protein 1
, surfeit protein