Shroom4

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August undefined, 2024

SpletLegend. Settings. Analysis SpletShroom4 is expressed in a wide range of cell types during mouse development, including vascular endothelium and the polarized epithelium of the neural tube and kidney. In endothelial cells and embryo fibroblasts, endogenous Shroom4 co-distributes with myosin II to a distinct cytoplasmic population of F-actin and ectopic expression of Shroom4 in ...

Anti-SHROOM4 antibody (ab121316) Abcam

SpletSHROOM4 (KIAA1202) protein expression summary. Human assay: EFO-21 fixed with PFA, dilution: 1:200 Human assay: HUVEC/TERT2 fixed with PFA, dilution: 1:200 SpletSHROOM4 (NM_020717.3):c.4101G>T (p.L1367F, p. (Leu1367Phe)) -. SHROOM4_000030. 12 heterozygous; Clinindb (India), 6 homozygous; Clinindb (India), found once, … hrps hq address

SHROOM1 Gene - GeneCards SHRM1 Protein SHRM1 Antibody

Splet118102652(shroom4) 118103198 118120888(shroom2a) 118122229(shroom1) 118126029(shroom3) LCF: 108878892(shroom2a) 108893448(shroom1) 108897244 … SpletSHROOM4. GENERAL INFORMATIONi. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC . SHROOM4. Splet10. okt. 2012 · shroom family member 4. Gene ID: 57477, updated on 29-Mar-2024. Gene type: protein coding. Also known as: SHAP; shrm4; MRXSSDS. See all available tests in … hrp singapore government

(PDF) SHROOM4 Variants Are Associated With X-Linked Epilepsy …

SpletDefects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. Spletshroom4; Summary; Expression; Phenotype; Mutations; Human Disease; Gene Ontology; Protein Domains; Transcripts; Interactions and Pathways; Antibodies; Plasmids; … hobart to brisbane flight timeSplet17. maj 2024 · SHROOM4 was potentially a candidate pathogenic gene of idiopathic epilepsy without intellectual disability. The genotype-phenotype correlation and sub … hrps oakville twitter

"SpletSHROOM4 (HGNC:29215) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name shroom family member 4 Gene type protein-coding gene … " - Shroom4

Shroom4

Entry - *300579 - SHROOM FAMILY MEMBER 4; …

SpletБәхәс:SHROOM4. Бәхәс. : SHROOM4. Бу мәкалә тематикасы «Биология» википроекты белән бәйле. Аның максаты — темалары буенча Биология белән бәйле мәкаләләрне төзү һәм яхшырту. Теләсәгез, мәкалә ... SpletInvitrogen Anti-SHROOM4 Polyclonal, Catalog # PA5-139736. Tested in Immunocytochemistry (ICC/IF) applications. This antibody reacts with Human samples. Supplied as 100 µL purified antibody (0.4 µg/mL).

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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 ... SpletSHROOM4 (HGNC:29215) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name shroom family member 4 Gene type protein-coding gene …

SpletClinVar archives and aggregates information about relationships among variation and human health. SpletView all genes; View SHROOM4 gene homepage; View graphs about the SHROOM4 gene database; Create a new gene entry; View all transcripts; View all transcripts of gene …

Splet01. feb. 2015 · Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and … Splet21. mar. 2024 · GeneCards Summary for SHROOM1 Gene. SHROOM1 (Shroom Family Member 1) is a Protein Coding gene. Diseases associated with SHROOM1 include Retroperitoneum Carcinoma and Transient Arthritis . Gene Ontology (GO) annotations related to this gene include actin filament binding . An important paralog of this gene is …

SpletPolyclonal Anti-SHROOM4 Antibody. shroom family member 4 References (1) Recommended Applications Product Description Polyclonal Antibody against Human SHROOM4 Alternative Gene Names KIAA1202 Open Datasheet. Price. $505.00. Product Number. HPA010565. Unit Size Concentration. Lot dependent. Availability >10 in Stock ...

SpletBackground: 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 … hrp software hobart to bruny island distanceSpletInvitrogen Anti-SHROOM4 Polyclonal, Catalog # PA5-139736. Tested in Immunocytochemistry (ICC/IF) applications. This antibody reacts with Human samples. … hrpsor