SUMO-modifiering Av Ett Nytt MAR-bindande Protein, SATB2

OSR1 - gaz.wiki

special AT-rich sequence binding protein 2. Synonyms. BAP002, mKIAA1034. Feature Type.

Satb2 gene

Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA … Functional Associations. SATB2 has 4,528 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, … SATB2 is required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes - probably by modulating BCL11B expression. It is a repressor of Ctip2 and a regulatory determinant of corticocortical connections in the developing cerebral cortex. Summaries for SATB2 gene (According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL) About This Sectio This gene was identified as an ASD candidate gene following the identification of a balanced chromosomal abnormality (BCA) leading to gene disruption in an ASD case (PMID 22521361).

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SATB2 protein Apr 25, 2019 Abstract SATB2‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and DNA-binding protein SATB2. Gene The SATB2 gene is transcribed in a telomeric to centromeric direction and lies in a gene-poor region of 2q32–q33; the nearest confirmed gene is 1.26 Mb About SATB2.

SATB2-associerat syndrom - SATB2 Gene Foundation

Mutations in the SATB2 gene cause SATB2-associated syndrome (SAS), characterised by developmental delay/intellectual disability with absent or limited SATB2 (SATB homeobox 2) · Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute ICD-10. Gene name or symbol. Other search option(s). Alphabetical list. Suggest an update. SATB2-associated syndrome due to a chromosomal rearrangement.

SATB2 -associated syndrome (SAS) is an autosomal dominant disorder. Almost all probands with SAS reported to date have the disorder as the result of a de novo genetic event. In two families, parental mosaicism seemed likely (given recurrence of SAS in sibs and failure to detect the gene … SATB2-associated syndrome (SAS) is a multisystem disorder characterized by significant neurodevelopmental compromise with limited to absent speech, behavioral issues, and craniofacial anomalies. All individuals described to date have manifest developmental delay / intellectual disability, with severe speech delay. SATB2, Syndrome associé au gène SATB2, délétion ou microdélétion 2q33.1, mutation du gène SATB2, AFSATB2, association française du satb2, Anomalie genetique SATB2 | Association Française du SATB2 The SATB2 Gene Trust UK was established to enhance the lives of those affected by SATB2-associated syndrome by providing emotional and educational support, and by raising awareness and supporting research.
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A score of 0 is equivalent to a gene that is not essential whereas a score of -1 corresponds to the median of all common essential genes. Feb 28, 2020 Learn more about what traits and medical care make up SATB2-associated syndrome in this video.

Gene name or symbol. Other search option(s).
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IDs. MGI:2679336. NCBI Gene: The SATB2 Gene Foundation, Inc. was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the Slide Slide SAS (Glass Syndrome) SATB2-associated Syndrome Is a rare, genetic disorder characterized by significant developmental delay with limited to In addition, SATB2 was found to repress the expression of several Hox genes including Hoxa2, an inhibitor of bone formation and regulator of branchial arch MAR-binding protein, SATB2, modulates immunoglobulin μ gene expression Mutations of the SUMO conjugation sites of SATB2 enhance its activation The SATB2 gene is associated with autosomal dominant Glass syndrome ( MedGen UID: 436765). Mutations in the SATB2 gene cause SATB2-associated syndrome (SAS), characterised by developmental delay/intellectual disability with absent or limited SATB2 (SATB homeobox 2) · Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute ICD-10. Gene name or symbol. Other search option(s).