Shroom4 genecard
SpletThis gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. SpletSHROOM4-201: 9556: 1493aa: ENSP00000365188.2 . Gene/transcipt that contains an open reading frame (ORF). Protein coding. CCDS35277: Q9ULL8: NM_020717.3: The GENCODE …
Shroom4 genecard
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Splet19. avg. 2024 · Members of this family contain a PDZ and 2 ASD domains of unknown function and have been shown to localize at the cytoskeleton and play a role in neurulation, cellular architecture, actin remodeling, and ion channel function. Yoder and Hildebrand (2007) cloned mouse Shroom4. The deduced 1,475-amino acid protein shares 80% … Splet01. jan. 2007 · SHROOM4, which is partially deleted in this patient, is involved in neuronal development and was shown to be associated with X-linked intellectual disability. This is a candidate gene, the loss of ...
Splet21. mar. 2024 · SHROOM4 (Shroom Family Member 4) is a Protein Coding gene. Diseases associated with SHROOM4 include Stocco Dos Santos Type X-Linked Intellectual … SpletAceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on the genome sequence. Our goals are to offer a reliable up-to-date resource on the genes, their functions, alternative variants, expression, regulation and interactions, in the hope to …
Splet12. mar. 2015 · Three escape genes, Eif2s3x, Shroom4, and Pbdc1 that show no H3K27me3 enrichment are labeled. Hprt, a gene subject to XCI, shows no H3K27me3 enrichment because it is deleted in Patski cells. (E, F) Same analysis as in (A, B) but for Ctcf knockdown. There is a lesser decrease in H3K27me3 levels on the X than in Firre … Splet03. dec. 2024 · This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced …
Splet10. jan. 2024 · Background Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by truncating mutations of CLCN5 …
Splet21. mar. 2024 · GeneCards Summary for SHROOM2 Gene SHROOM2 (Shroom Family Member 2) is a Protein Coding gene. Diseases associated with SHROOM2 include Ocular … screenly isoSpletInitially, the GeneCards database had two main features: delivery of integrated biomedical information for a gene in ‘card’ format, and a text-based search engine. Since 1998, the … screenly not startingSplet22. nov. 2024 · Shroom4 lacks the central ASD1 motif found in other SHROOM proteins. Gene Function Using immunofluorescence analysis, Yoder and Hildebrand (2007) … screenly open sourcescreenly ose - qicSpletnm_020717. 5 (shroom4): c. 940g>a (p. Glu314Lys) The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. screenly ose alternativeSplet17. maj 2024 · SHROOM4 was potentially a candidate pathogenic gene of idiopathic epilepsy without intellectual disability. The genotype-phenotype correlation and sub … screenly oscSpletRationales : Phenotypic Variability (Read more about curation type) PMIDs : 12673656, 16249884, 26740508, 28262662, 31654185. Notes : Variants in SHROOM4 cause wide range of features, not described as clinical manifestations of Stocco dos Santos syndrome. Expert Panel: No Secondary Contributors were specified. screenly ose integrations