Sptbn4 disease

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August undefined, 2024

WebDisease name MIM number (disease) List of intellectual disability related genes SPTBN4- spectrin beta, non-erythrocytic 4 Synonym(s) : KIAA1642, SPTBN3 Previous symbols and names: _ Type : gene with protein product Chromosomal location : 19q13.2 OMIM: 606214 HGNC: 14896 UniProtKB: Q9H254 Genatlas: - GenCC: Ensembl: ENSG00000160460 … WebDescription: Homo sapiens DISC1 scaffold protein (DISC1), transcript variant L, mRNA. (from RefSeq NM_018662) RefSeq Summary (NM_018662): This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction …

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WebAnti SPTBN4 pAb [Catalog No.: ATL-HPA054481] Neurodegeneration Products. CUSABIO dashboard. Fukushima Cancer Gene Overexpressing Cell Lines. ubiquitin proteasome related dashboard. Supplier Spotlight: BioAcademia. purefrex protein synthesis. IVF dashboard. Exosome purification and characterization. Web16 Nov 2001 · UniProt Q9H254 · SPTN4_HUMAN Protein Spectrin beta chain, non-erythrocytic 4 Gene SPTBN4 Status UniProtKB reviewed (Swiss-Prot) Organism Homo … brazilian straightening keratin treatment

Reactome SPTBN4 [cytosol]

WebSummaries for Sptbn4 Disorder MalaCards based summary: Sptbn4 Disorder, also known as neurodevelopmental disorder with hypotonia, neuropathy, deafness, is related to neurodevelopmental disorder with hypotonia, neuropathy, and deafness and 3-methylglutaconic aciduria, type iii. GeneReviews: NBK559435 Sources Related Diseases … Web26 Mar 2024 · Variants in SPTBN4 disrupt the cytoskeletal machinery that controls proper localization of ion channels and the function of axonal domains, thereby generating … WebNeurofilament light polypeptide, also known as neurofilament light chain, abbreviated to NF-L or Nfl and with the HGNC name NEFL is a member of the intermediate filament protein family. This protein family consists of over 50 human proteins divided into 5 major classes, the Class I and II keratins, Class III vimentin, GFAP, desmin and the ... cortisol manager 90 tabs

Neurofilament light polypeptide - Wikipedia

Sptbn4 disease

Tissue expression of SPTBN4 - Summary - The Human …

WebVariants in SPTBN4 disrupt the cytoskeletal machinery that controls proper localization of ion channels and the function of axonal domains, thereby generating severe neurological … WebHuman Disease . Associated With sptbn4 Human Ortholog . Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID; Neurodevelopmental disorder with hypotonia, neuropathy, and deafness: 617519: Associated With sptbn4 Via Experimental Models . No data available. Gene Ontology . Protein Domains . Domain, Family, and Site Summary . No ...

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WebWe were able to translate these findings to patients with Alzheimer’s disease, identifying DNA methylation-associated silencing of three targets genes: thromboxane A2 receptor (TBXA2R), sorbin and SH3 domain containing 3 (SORBS3) and spectrin beta 4 (SPTBN4). These hypermethylation targets indicate that the cyclic AMP response element-binding ... WebDisease Any Acute myeloid leukemia Breast cancer Cervical cancer Chronic lymphocytic leukemia Colorectal cancer Diffuse large B-cell lymphoma Endometrial cancer Glioma …

Web21 Dec 2024 · Citation 3 Despite the improvement in treatment for patients with HGSOC, the 5-year survival rate of patients diagnosed at the FIGO III or IV stage is less than 40%, making this disease the second most lethal gynaecological malignancy. Citation 4 Therefore, exploring novel and effective diagnostic and prognostic markers is urgently needed. WebCurrent Therapeutic Targets for Alzheimer's Disease; Research Highlights. A Brainwide Atlas of Synapses Across the Mouse Life Span; A Circadian Rhythm-Gated Subcortical Pathway for Nighttime-Light-Induced Depressive-Like Behaviors in Mice; A Functional Map for Diverse Forelimb Actions within Brainstem Circuitry

WebView SPTBN4 mouse/human homology from Alliance Direct with: genes, location, sequences, associated human diseases WebSpectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin Cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family …

WebFunctional Associations. SPTBN4 has 3,809 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 73 datasets.

WebEvidence-Based Prevention of Alzheimer's Disease: Systematic Review and Meta-Analysis of 243 Observational Prospective Studies and 153 Randomised Controlled Trials; ... SPTBN4, SPTBN3, Spnb4, KIAA1642, EMBL BAB83243.1 and Ensembl ENSRNOP00000028393, accession number Q9H254) Mouse: 98% identity (209/212 amino acids identical) ... brazilian street food new westminsterWebAnti-SPTBN4 antibody produced in rabbit (KIAA1642 ); Prestige Antibodies Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution; Suitable for immunohistochemistry; Prestige Antibodies are highly characterized and extensively validated antibodies with the added b brazilian stretch mark camouflage tattooWeb13 Apr 2024 · Spectrins are assembled from α and β subunits, encoded by SPTA1 and SPTAN1 (α) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (β). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders ( SPTA1 , SPTB ) and neurologic disorders ( SPTAN1 , SPTBN2 , and SPTBN4 ), but no phenotypes have been … cortisol measures what