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Shroom4 genecard

Splet17. maj 2024 · 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 ... Splet10. okt. 2012 · SHROOM4 shroom family member 4. SHROOM4. shroom family member 4. Gene ID: 57477, updated on 29-Mar-2024. Gene type: protein coding. Also known as: …

GeneCards - Human Genes Gene Database Gene Search

Splet05. avg. 2010 · GeneCards (www.genecards.org) is a comprehensive, authoritative compendium of annotative information about human genes, widely used for nearly 15 years. Its gene-centric content is automatically mined and integrated from over 80 digital sources, resulting in a web-based deep-linked card for each of … 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 … ds4windows disable gyro https://dlwlawfirm.com

SHROOM4 Variants Are Associated With X-Linked Epilepsy With

SpletCOSMIC gene SHROOM4 (COSG376020) Genomic coordinates X:50591647..50814044 (negative strand) Synonyms KIAA1202, CCDS35277.1, Q9ULL8, ENSG00000158352.15, … SpletSHAP; shrm4; MRXSSDS Summary 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 … Splet[SHROOM4] 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 Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have ... commercial dishwasher grounding

All variants in the SHROOM4 gene - Global Variome shared LOVD

Category:SHROOM4 shroom family member 4 [ Homo sapiens (human) ]

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Shroom4 genecard

SHROOM4 Variants Are Associated With X-Linked Epilepsy

Splet21. mar. 2024 · This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in … 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 …

Shroom4 genecard

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SpletShroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization. All animal cells utilize a specialized set of cytoskeletal proteins to determine their overall … 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 …

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 ... Splet03. dec. 2024 · SHROOM4 shroom family member 4 [ (human)] Gene ID: 57477, updated on 3-Dec-2024. Summary. This gene encodes a member of the APX/Shroom family, which …

SpletPredicted to be located in cytoplasm and cytoskeleton. Predicted to be active in several cellular components, including adherens junction; apical junction complex; and apical plasma membrane. Human ortholog (s) of this gene implicated in Stocco Dos Santos type X-linked intellectual disability. Orthologous to human SHROOM4 (shroom family member … SpletShowing of 840 Results for SHROOM4 Search Time: 0 ms. Export Show: Symbol Description Category UniProt ID GIFtS GC id Score; 826: NDUFA1: NADH:Ubiquinone Oxidoreductase …

SpletInitially, 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 …

commercial dishwasher glovesSpletThe SHROOM4 gene is widely expressed in the brain 2. It plays a critical role in regulating dendritic spine morphology and controls the cell surface expression and intracellular … ds4windows download for ps4 controllerSplet21. mar. 2024 · GeneCards Summary for SHROOM2 Gene SHROOM2 (Shroom Family Member 2) is a Protein Coding gene. Diseases associated with SHROOM2 include Ocular … commercial dishwasher for restaurantsSpletnm_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. ds4 windows controller latencySplet21. mar. 2024 · GeneCards Summary for SHROOM1 Gene SHROOM1 (Shroom Family Member 1) is a Protein Coding gene. Diseases associated with SHROOM1 include … ds4 windows controller not connectingSpletGene view. The gene view histogram is a graphical view of mutations across SHROOM4. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region … commercial dishwasher gallons per hourSpletSHROOM4-201: 9556: 1493aa: ENSP00000365188.2 . Gene/transcipt that contains an open reading frame (ORF). Protein coding. CCDS35277: Q9ULL8: NM_020717.3: The GENCODE … commercial dishwasher gpm