2024 Phf21a gene

Phf21a gene

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August undefined, 2024

WebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site. WebDescription: Homo sapiens zinc finger MYM-type containing 2 (ZMYM2), transcript variant 9, mRNA. (from RefSeq NM_001353162) RefSeq Summary (NM_001190964): The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this …

PHF21A PHD finger protein 21A - NIH Genetic Testing …

WebDec 30, 2024 · Kim et al. (2012) identified 3 patients with balanced translocations disrupting the PHF21A ( 608325) gene in the PSS critical region. The patients had intellectual disability and craniofacial anomalies seen in PSS but did not have other manifestations of the contiguous gene deletion syndrome. WebFeb 5, 2024 · The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates … brunet chemin ste-foy

PHF21A Gene - GeneCards PF21A Protein PF21A …

WebDec 17, 2024 · PHF21A (PHD finger protein 21A) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during … WebThe PHF21A gene helps to control other genes and is important for the development of the brain. Symptoms Because the PHF21A gene is important in brain development, many … WebThe PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by … brunet christophe

i>PHF21A Related Disorder: Description of a New Case

WebPhf21a Gene Detail. Summary. Symbol. Phf21a. Name. PHD finger protein 21A. Synonyms. 80kDa, Bhc80, Braf35/HDAC complex (Bhc), D030065N23Rik, MGC:29190, PFTF1. Feature … WebOct 22, 2024 · PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its … brunet cloth example of constructive speech

"WebThe gene view histogram is a graphical view of mutations across PHF21A. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. " - Phf21a gene

Phf21a gene

Anti-PHF21A Antibodies Invitrogen - Thermo Fisher Scientific

WebSep 26, 2024 · Phf21a PHD finger protein 21A [ (house mouse)] Gene ID: 192285, updated on 26-Sep-2024 Summary Enables chromatin binding activity. Acts upstream of or within suckling behavior. Located in nucleus. Is expressed in several structures, including central nervous system; cranium; early conceptus; genitourinary system; and hemolymphoid … WebThe PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron …

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WebMar 21, 2024 · PHF21A. PHD finger protein 21A. Gene ID: 51317, updated on 28-Apr-2024. Gene type: protein coding. Also known as: BHC80; NEDMS; BM-006; IDDBCS. See all … WebMar 21, 2024 · PHF21A (PHD Finger Protein 21A) is a Protein Coding gene. Diseases associated with PHF21A include Intellectual Developmental Disorder With Behavioral …

WebOct 22, 2024 · gest that PHF21A is a contributory gene for these clin-ical features in PSS. The extra C-terminal aberrant tail in the elongated. proteins from patients 1, 3, and 7 could act dominant. WebJan 27, 2024 · Potocki–Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central...

WebThe PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron … WebPHF21A-related syndrome happens when there are changes to the PHF21A gene. These changes can keep the gene from working as it should. Key role The PHF21A gene helps …

WebPHD finger protein 21A is a protein that in humans is encoded by the PHF21A gene.[5][6][7] For faster navigation, this Iframe is preloading the Wikiwand page for PHF21A . Home

WebPHF21A is part of cluster 76 Brain & Bone marrow - Chromatin organization with confidence i Confidence is the fraction of times a gene was assigned to the cluster in repeated clustering, and therefore reflects how strongly associated it is to the cluster. example of constructive feedback to managerWebJan 3, 2024 · The PHF21A gene encodes BHC80, a component of a BRAF35 (605535)/histone deacetylase (HDAC; see 601241) complex (BHC) that mediates … example of constructive feedback to superiorWebDe novo translocations disrupting the PHF21A gene, as well as de novo truncating variants in PHF21A, have been identified in patients presenting with intellectual disability and dysmorphic facial features (Kim et al., 2012; Hamanaka et al., 2024). Potocki-Shaffer syndrome (OMIM 601224) is a contiguous gene deletion syndrome characterized by ... example of constructive speech in debateWebView Gene Families for PHF21A_TARGET_GENES. The following table provides a functional overview of the MSigDB gene sets by categorizing their genes into a small number of carefully chosen "gene families". To categorize the genes in a gene set, use the gene set page or the Investigate Gene Sets page. brunet clinic chateauguayhttp://gene.sfari.org/database/human-gene/PHF21A example of constructivismWebDec 17, 2024 · PHF21A (PHD finger protein 21A) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex.... brunet chateauguayWebO objetivo deste estudo é explorar os benefícios do uso da internet para pessoas com deficiências intelectuais (ID), os riscos que podem enfrentar ... Registro de ensaios clínicos. ICH GCP. bruneteaux twitter