C2orf69 omim
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,... WebNM_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 ...
C2orf69 omim
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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. 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 WebC2ORF69 has 3,049 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 51 datasets.
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... Web3 beds, 1 bath, 1146 sq. ft. house located at 2969 Morcom Ave, Oakland, CA 94619 sold for $756,000 on Dec 10, 2024. MLS# 40844157. Maxwell Park's living at its best! …
WebIn 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 …
Web2969 Morcom Ave, Oakland CA, is a Single Family home that contains 1146 sq ft and was built in 1925.It contains 3 bedrooms and 1 bathroom.This home last sold for $756,000 in … new construction roofing costnew construction romulus michiganWebInvolved in oxidative phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024] new construction rome italyWebC2orf69; Gene information. Gene name-Description -Location-Cytogenetic region-Biotype-Gene in NCBI. Gene in Ensembl. Phenotype information; Pathway information; … new construction romeoville ilWebJul 1, 2024 · C2orf69 is an evolutionarily conserved protein in most eukaryotic species Genomic sequence analysis revealed that human C2orf69 is encoded by two exons on … new construction roofingWeb1 bed, 1 bath, 1088 sq. ft. house located at 2669 Lummi Rd, Orr, MN 55771. View sales history, tax history, home value estimates, and overhead views. APN 575-0010-04780. new construction roofing companies in texasWebAug 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. internet ready blu ray player