C2orf69 omim
WebMar 12, 2024 · C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial localization. Consistent with mitochondrial dysfunction, patients show signs of respiratory chain defect and a CRISPR-Cas9 knockout cell model of C2orf69 shows comparable respiratory chain defects. WebAug 24, 2024 · Hypertrophic cardiomyopathy was diagnosed at 9 to 11 months of age, and resulted in death in 2 patients at ages 17 and 15 months, respectively. Other features included hepatomegaly and psychomotor retardation. Laboratory studies showed increased plasma lactate and alanine, as well as abnormal liver enzymes.
C2orf69 omim
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WebInvolved in oxidative phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024] WebBrain imaging showed global brain atrophy, abnormal hippocampal shape, subependymal cysts, and abnormal T2-weighted signals in the cerebellum. Serum and CSF lactate levels were increased. He subsequently showed severely delayed psychomotor development with disturbed muscle tone, spasticity, dystonia, and incoordination.
WebMay 1, 2024 · OMIM Clinical Synopses Gene Map Search History #618855 Table of Contents Title Phenotype-Gene Relationships Clinical Synopsis Phenotypic Series Text Description Clinical Features Inheritance Molecular Genetics Animal Model References Creation Date Edit History External Links Protein WebOct 1, 2024 · The results indicate that C2orf69 is essential for brain development. Examination of a muscle biopsy from an affected child exposed changes such as subsarcolemmal mitochondria accumulation and...
WebBy recapitulating the accumulation of polyglucosan bodies observed in human probands, C2orf69 knockout zebrafish further substantiate a functional link between GBE1-driven glycogen metabolism and ... WebNov 30, 2016 · A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-4 (COXPD4) is caused by homozygous or compound heterozygous mutation in the gene encoding mitochondrial elongation factor Tu (TUFM; 602389) on chromosome 16p11. For a discussion of genetic heterogeneity of …
WebHuman C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we report 9 children from 5 unrelated families with a fatal syndrome consisting of severe auto-inflammation,...
WebGeneRIFs: Gene References Into Functions. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. killer whale life spanWebApr 6, 2024 · Abstract. Human C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we report 9 children from 5 unrelated families with a fatal syndrome … killer whale movie codycrossWebJul 1, 2024 · Collectively, our results delineate an autoinflammatory Mendelian disorder of C2orf69 deficiency that disrupts the development/homeostasis of the immune and … killer whale lifespan in captivity vs wildWebIn 2 affected Pakistani sibs, Lausberg et al. (2024) identified a different homozygous mutation in the C2ORF69 gene (619219.0002). The mutations, which were identified by … killer whale kills trainer dawnWeb3269 Morcom Ave, Oakland CA, is a Single Family home that contains 1884 sq ft and was built in 1937.It contains 2 bedrooms and 1 bathroom. The Zestimate for this Single … killer whale national geographicWebNM_153689.6(C2orf69):c.280del (p.Glu94fs) Cite this record. Cite this record Close. Copy. Help Interpretation: Pathogenic Review status: no assertion criteria provided Submissions: 1 First in ClinVar: Jul 15, 2024 ... killer whale movie blackfishWebJul 9, 2024 · Expression studies in COS-7 cells by Lausberg et al. (2024) showed that C2ORF69 localized close to, but not congruent with, TOMM20 (601845), consistent with … killer whale of filmdom crossword