Slc9a6 gene function
WebThis gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein locali zes to early and recycling endosomes and may be … WebMar 21, 2024 · Complete information for SLC9A6 gene (Protein Coding), Solute Carrier Family 9 Member A6, including: function, proteins, disorders, pathways, orthologs, and …
Slc9a6 gene function
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WebThe mother was found to have two normal copies of the SLC9A6 gene. PMID: 27256868 Masurel-Paulet A et al. (2016) reported a splicing variant (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. Web开馆时间：周一至周日7:00-22:30 周五 7:00-12:00; 我的图书馆
WebAs well, mutation in the SLC9A6 gene has been identified with autism (Garbern et al., 2010). Molecular Function This gene encodes a sodium-hydrogen exchanger that is a member of the solute carrier family 9. The encoded protein may be involved in regulating endosomal pH and volume. External Links WebMay 27, 2009 · They identified four mutations in the SLC9A6 gene (MIM #300231; Xq26.3), which encodes the Na + /H + exchanger 6 (NHE6) ... suggesting its critical role for the function of the protein.
WebElectroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal … WebView mouse Slc9a6 ChrX:55655117-55709590 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression
WebSLC9A6 INFORMATION. Proteini. Full gene name according to HGNC. Solute carrier family 9 member A6. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. SLC9A6 (KIAA0267, NHE6) Protein classi. Assigned HPA protein class (es) for the encoded protein (s).
WebDec 22, 2024 · SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function … tang hall surgery yorkWebSLC9A6 gene solute carrier family 9 member A6 Normal Function The SLC9A6 gene provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). Na+/H+ exchangers are found in the membranes that surround cells or compartments within cells. These proteins act as tang hao vs golden crocodileWebSep 1, 2024 · SLC9A6 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants. Gene Function Electroneutral exchange of protons for Na (+) and K (+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. (Source: Uniprot) Previous … tang hall schoolWebDec 12, 2013 · The SLC9 gene family encodes Na+/H+ exchangers (NHEs). These transmembrane proteins transport ions across lipid bilayers in a diverse array of species from prokaryotes to eukaryotes, including plants, fungi, and animals. They utilize the electrochemical gradient of one ion to transport another ion against its electrochemical … tang hall surgery york medical groupWebNov 17, 2024 · SLC9A6 is a twelve-span transmembrane protein and exon 12 encodes the last transmembrane motif. 3 The mutational spectrum indicated a vital role of exon 12 in the function of SLC9A6. The de novo splice-site variant [NM_001042537.1: c.1463-1G>A] in SLC9A6 was identified as a novel pathogenic variant in this report. tang heab seng fish sauce factory co. ltdhttp://www.informatics.jax.org/marker/MGI:2443511 tang hall school yorkWebThe genes that promote apoptosis typically function as tumor suppressors, rather than oncogenes, as they help to prevent the development and progression of cancer. Tumor suppressor genes and oncogenes have opposing roles … tang hall working men\u0027s club