Shroom4 genecard
SpletRationales : 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.
Shroom4 genecard
Did you know?
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 … 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% …
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 … SpletSHROOM4-201: 9556: 1493aa: ENSP00000365188.2 . Gene/transcipt that contains an open reading frame (ORF). Protein coding. CCDS35277: Q9ULL8: NM_020717.3: The GENCODE …
SpletSHROOM4: Shroom Family Member 4: Protein Coding: 41: GC0XM050576: 38.32: 2: DGKK: Diacylglycerol Kinase Kappa: Protein Coding: 42: GC0XM050365: 8.68: 3: FJ601684-486: … Splet15. nov. 2024 · Background SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital …
Splet21. mar. 2024 · GeneCards Summary for SHROOM2 Gene SHROOM2 (Shroom Family Member 2) is a Protein Coding gene. Diseases associated with SHROOM2 include Ocular …
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 … lemon shaved brussel sprouts shrimpSplet17. 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 ... lemon shark robloxSpletLegend. Settings. Analysis lemon sherbet crystalsSplet10. 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: … lemon shark size in feetSplet27. mar. 2024 · GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. … lemon sharks sal cape verdeSplet25. jan. 2024 · SHROOM2 is a key mediator of RhoA–ROCK pathway that regulates cell motility and actin cytoskeleton organization. However, the functions of SHROOM2 beyond RhoA/ROCK signaling remain poorly ... lemon shed nightclub bradfordSpletPredicted 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 … lemon sheds basildon