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Shroom4

Spletshroom4; Summary; Expression; Phenotype; Mutations; Human Disease; Gene Ontology; Protein Domains; Transcripts; Interactions and Pathways; Antibodies; Plasmids; … SpletSummary. 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.

SHROOM4 curation results for Dosage Sensitivity - Clinical Genome

SpletPROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. SHROOM4 INFORMATION. Proteini. Full gene name according to HGNC. Shroom family member 4. … Splet17. maj 2024 · SHROOM4 was potentially a candidate pathogenic gene of idiopathic epilepsy without intellectual disability. The genotype-phenotype correlation and sub … springboot clickhouse 配置 https://mickhillmedia.com

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

Splet146. Nr 4–6. Zawał serca. WIADOMOŚCI LEKARSKIE 2008, LXI, 4–6. Małgorzata Z. Lisik, Aleksander L. Sieroń. NIEPEŁNOSPRAWNOŚĆ INTELEKTUALNA 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 … SpletGene "Gene description" Evidence A1CF "APOBEC1 complementation factor" "Evidence at protein level" A4GALT "Alpha 1,4-galactosyltransferase (P blood group)" "Evidence at protein le springboot clickhouse 批量插入

Frontiers SHROOM4 Variants Are Associated With X-Linked …

Category:Anti-SHROOM4 antibody (ab121316) Abcam

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Shroom4

SHROOM4 protein expression summary - The Human Protein Atlas

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 ...

Shroom4

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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 ... Splet16. avg. 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 ...

SpletSHROOM4 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SHROOM4 Genome Browser, SHROOM4 References SHROOM4 - Explore an overview of SHROOM4, with a histogram … SpletSHROOM4 (NM_020717.3):c.4101G>T (p.L1367F, p. (Leu1367Phe)) -. SHROOM4_000030. 12 heterozygous; Clinindb (India), 6 homozygous; Clinindb (India), found once, …

SpletSHROOM4 (HGNC:29215) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name shroom family member 4 Gene type protein-coding gene … SpletSHROOM4 and members of this protein family have been shown to localize at the cytoskeleton, and play a role in neurulation, cellular architecture, actin remodeling, ion …

Splet118102652(shroom4) 118103198 118120888(shroom2a) 118122229(shroom1) 118126029(shroom3) LCF: 108878892(shroom2a) 108893448(shroom1) 108897244 …

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 … spring boot clickhouse mysqlSpletSHROOM4 (KIAA1202) protein expression summary. Human assay: EFO-21 fixed with PFA, dilution: 1:200 Human assay: HUVEC/TERT2 fixed with PFA, dilution: 1:200 shepherds dumfries estate agentsSpletBackground: 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 … springboot clickhouse read timed out