Shroom4
SpletSHROOM4 (NM_020717.3):c.4101G>T (p.L1367F, p. (Leu1367Phe)) -. SHROOM4_000030. 12 heterozygous; Clinindb (India), 6 homozygous; Clinindb (India), found once, … 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 …
Shroom4
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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 SpletБәхәс:SHROOM4. Бәхәс. : SHROOM4. Бу мәкалә тематикасы «Биология» википроекты белән бәйле. Аның максаты — темалары буенча Биология белән бәйле мәкаләләрне төзү һәм яхшырту. Теләсәгез, мәкалә ...
Spletshroom4. sections. tissue brain single cell type tissue cell type pathology disease immune cell blood protein subcellular cell line structure metabolic about. introduction history organization publications antibody submission antibody availability acknowledgments contact news. news articles press room ... Splet118102652(shroom4) 118103198 118120888(shroom2a) 118122229(shroom1) 118126029(shroom3) LCF: 108878892(shroom2a) 108893448(shroom1) 108897244 …
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 ... 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 …
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 ...
SpletPROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. SHROOM4 INFORMATION. Proteini. Full gene name according to HGNC. Shroom family member 4. … dr jelinek gauguschSplet12. mar. 2015 · To balance the dosage of X-linked gene expression between the sexes, one of the X chromosomes in females is silenced. X inactivation is initiated by upregulation of … ram mensajeriaSHROOM4 (Shroom Family Member 4) is a Protein Coding gene. Diseases associated with SHROOM4 include Stocco Dos Santos Type X-Linked Intellectual Disability and Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type. Gene Ontology (GO) annotations related to this gene include actin filament binding. ram mhanje kaySpletSummary. 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. ram memorija racunaraSplet10. 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 … ramm globalSplet15. nov. 2024 · SHROOM4, coding for Shroom Family Member 4, is a member of the Shroom protein family that contains a N-terminal PDZ domain, a coiled coil and a C … dr jelinek batesville indianaSpletshroom4; Summary; Expression; Phenotype; Mutations; Human Disease; Gene Ontology; Protein Domains; Transcripts; Interactions and Pathways; Antibodies; Plasmids; … ram memorija kupujem prodajem