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Slc9a6 gene function

WebA novel SLC9A6 mutation (c.441delG, p.S147fs) was identified in one patient in the AS-like cohort, but no mutation was identified in XMR cohort, suggesting mutations in SLC9A6 … WebChristianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in …

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WebSep 2, 2016 · Background: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. The patients have pronounced limitations in cognitive ability, motor skills and adaptive behaviour. However, … 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). balmoral building https://dooley-company.com

Entry - *608396 - SOLUTE CARRIER FAMILY 9 …

WebSummary of SLC9A6 (KIAA0267, NHE6) expression in human tissue. Cytoplasmic expression in all tissues. ... SLC9A6: Gene description i. Solute carrier family 9 member A6: Protein class i Disease related genes Human disease related genes ... SLC9A6 is part of cluster 58 Brain - Synaptic function with confidence i WebSLC9A6 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SLC9A6 Genome Browser, SLC9A6 References. SLC9A6 - Explore an overview of SLC9A6, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. Projects. WebDec 16, 2010 · Gene Function Hill et al. (2006) demonstrated that bullfrog saccular hair bundles regulate pH independently of the cell body using a mechanism that operates in the presence of K+, and identified NHE6 (SLC9A6; 300231) and NHE9 as strong candidates for the bundle H+ extrusion mechanism. balmoral burn

Frontiers Case Report: Christianson Syndrome Caused by SLC9A6 …

Category:Christianson syndrome: MedlinePlus Genetics

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Slc9a6 gene function

Sodium/hydrogen exchanger 6 - Wikiwand

WebDec 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 …

Slc9a6 gene function

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WebDec 8, 2024 · 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 … WebA nonsense mutation in the SLC9A6 gene was identified in a 22 year-old male with Christianson syndrome, which is characterized by mental retardation, ASD, and epilepsy …

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. WebDec 8, 2024 · Go to Variation Viewer for SLC9A6 variants Summary 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 pH and volume.

WebSep 7, 2016 · The authors suggested that Nha2 and SLC9A6 are homologous sodium/hydrogen exchangers that are important for mitochondrial function. Ohgaki et al. … Web3. A) The figure shows a phylogeny of 6 species (A − F) with the corresponding organization, number and function of genes in the genomes of the six species. Each box is a separate gene and genes with different functions have different shading. Use parsimony and a D, L or N to indicate where gene duplication gene loss and neofunctionalization happened on the …

WebDec 31, 2024 · Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation Article Dec 2024 Hansashree Padmanabha Arushi Gahlot Saini...

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 … arma 3 koth best gunWebFunction. Endosomal Na +, K + /H + antiporter ( PubMed: 15522866, PubMed: 31676550, PubMed: 32277048, PubMed: 28635961 ). Mediates the electroneutral exchange of … balmoral cap badge on tartanWebNov 19, 2024 · Eight patients harbored pathogenic or likely pathogenic mutations (SLC5A1, SLC9A6, SLC12A6, SLC16A1, SLC19A3, and SLC52A3), and 12 patients were found to … arma 3 koth 420 gamingWebFeb 26, 2024 · Bioinformatical tools were used to investigate SLC9A6 protein structure changes. Results: Sequencing and bioinformatical analysis revealed a novel donor splice site variant (NC_000023.11 (NM_001042537.1):c.899 + 1G > A) that leads to a frameshift and a premature stop codon. arma 3 koth badgeshttp://www.informatics.jax.org/marker/MGI:2443511 balmoral burn runWebMar 29, 2024 · Gene ID: 10479, updated on 21-Mar-2024. Summary. This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded … arma 3 koth rhsWebLoss-of-function mutations in the recycling endosomal (Na +,K +)/H + exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectual disability called Christianson Syndrome (CS). However, knowledge of the … arma 3 koth gameplay