Slc20a2 ala457thr
WebSLC20A2 of the case #2 showing the c.541C>T p.R181W (NM_ 001257180) heterozygous missense mutation. f Electropherogram rela-tive to exon 6 of SLC20A2 gene in case #3 showing the c.687dupT p.V230Cfs*28 (NM_001257180) heterozygous mutation Neurogenetics (2024) 22:65–70 67. WebSLC20A2 antibody; Sodium-dependent phosphate transporter 2 antibody; Solute carrier family 20 (phosphate transporter) member 2 antibody; solute carrier family 20 (phosphate …
Slc20a2 ala457thr
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WebJan 20, 2024 · SLC20A2 (solute carrier family 20, member 2), the first causative gene described , encodes the transmembrane sodium-inorganic phosphate cotransporter PiT2, … WebNov 17, 2024 · Studies have suggested that more than 50 variants of SLC20A2 gene mutations account for approximately 50% of IBGC cases. There is a wide spectrum of mutation types, including frameshift, nonsense, and splice site mutations in addition to deletion and missense mutations. Here we report a case of familial basal ganglia …
WebSLC20A2 or XPR1 probably disrupt cerebral Pi homeostasis, eventually resulting in the accumulation of hydroxyapatite in the brain (Legati et al., 2015; Wang et al., 2012). On the other WebThe 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 ...
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 … WebThe recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional accumulation of inorganic phosphate in the brain, causing calcium phosphate deposition.
WebNov 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.
WebSLC20A2 gene haploinsufficiency is a likely pathogenic mechanism of brain calcification; half dosage of SLC20A2 expression cannot maintain the phosphate transport demand in the brain (Baker et... do it right screeningWebJul 18, 2024 · The SLC20A2 gene encodes the 652 amino acid long type-III sodium-dependent phosphate transporter 2 (PiT2), which is a membrane protein with 12 transmembrane domains that plays a major role in the maintenance of cellular Pi homeostasis in the brain. do it right serve it rightWeb42 SLC20A2 Silencer Select Pre-designed, Validated, and Custom siRNA in Standard, HPLC, and In-vivo Ready Purities. do it right rpWebFeb 12, 2012 · This tissue-specific expression profile of SLC20A2 might explain regional vulnerability to the pathologic changes in IBGC, a disorder in which no calcification is … fair work voluntary redundancyWebThe recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional … fair work web chatWebFeatures. Most 6' 8" single entry Therma-Tru doors are compatible with the Impressions integrated storm and entry door system. Inviting selection of door styles. Wide choice of … do it right serve it safe wa.govWebTo 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 ... fair work victoria long service leave