Slc20a2 ala457thr
http://www.sherenesfivestarbarns.com/ WebJan 19, 2024 · Four genes have been known to be associated with PFBC, including SCL20A2, PDGFB, PDGFRB and XPR1. SLC20A2 is the most common gene involved with PFBC (55–66%), followed by PDGFB (31%) and PDGFRB (10%) [ 10 ]. It has also been reported that 14% patients with PFBC were sporadic cases.
Slc20a2 ala457thr
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WebUnique variants in the SLC20A2 gene The variants shown are described using the NM_006749.4 transcript reference sequence. Legend Please note that a short description … WebSep 1, 2012 · SLC20A2 encodes an inorganic phosphate transporter, PiT-2, widely expressed in various tissues, including brain, and is part of a major family of solute carrier membrane transporters. 50 variants...
WebTo establish Slc20a2 homozygous knockout mice, we used the Slc20a2tm1a(EUCOMM)Wtsi alleleon aC57BL/6NTac background obtained from the European Mouse Mutant Archive. The targeting vector introduced a splice acceptor and SV40 polyadenylation sequences between the second and third cod-ing exons in Slc20a2, which leads to a premature stop of ... WebSLC20A2 antibody; Sodium-dependent phosphate transporter 2 antibody; Solute carrier family 20 (phosphate transporter) member 2 antibody; solute carrier family 20 (phosphate …
WebIndianapolis is a city in the United States of America. It is the state capital and the most-populous city in the state of Indiana. The state of Indiana was settled by Native … WebMar 21, 2024 · SLC20A2 (Solute Carrier Family 20 Member 2) is a Protein Coding gene. Diseases associated with SLC20A2 include Basal Ganglia Calcification, Idiopathic, 1 and …
WebJul 6, 2024 · A mutation in SLC20A2 (c.C1849T) led to a change in an amino acid (p.R617C), which may be involved in the development of HME by inducing metabolic disorders of phosphate and abnormal proliferation and differentiation in chondrocytes.
WebThe gene view histogram is a graphical view of mutations across SLC20A2. 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. involving financeWebNov 6, 2024 · Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength. Our results confirm that deletion in SLC20A2 is a causal mechanism for PFBC and highlight the importance of functional study for classifying a rare missense variant as (likely) pathogenic. involving great risk clueWeb(317) 888-8236. Pat. Five Star South 1195 N Madison Avenue Greenwood, IN 46142 E. of Greenwood Park Mall involving graduates in student formationWebprotein-coding gene in the species Homo sapiens. This page was last edited on 20 January 2024, at 08:12. All structured data from the main, Property, Lexeme, and EntitySchema … involving gene therapy sayWebThe SLC20A2 gene (MIM * 158378) encodes for the transmembrane type III sodium-dependent phosphate transporter 2 (PiT2), which is largely expressed in the brain, especially in the regions of globus ... involving high risk of loss crosswordWebJul 2, 2024 · Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as … involving gene therapyWebView active genomic custom columns; Enable more genomic custom columns; View all individuals; View all individuals with variants in gene SLC20A2; Create a new data submission involving great risk crossword