2024 Slc9a6 gene function

Slc9a6 gene function

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August undefined, 2024

WebNormal 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 … WebLoss-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 …

SLC9A6 protein expression summary - The Human Protein Atlas

WebFeb 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. 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 new listings homes north royalton

Gene: SLC9A6 - SFARI Gene

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 … WebThe SLC9A6 gene is composed of 669 amino acids and has only one domain. Predicted functional domains are shown together with the position of a novel de novo mutation in the report. SLC9A6 conserved domain was predicted by NCBI Conserved Domain Database. 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. intouch 200smart

SLC9A6 Gene - Somatic Mutations in Cancer

Gene: SLC9A6 - SFARI Gene

WebSep 7, 2016 · The authors suggested that Nha2 and SLC9A6 are homologous sodium/hydrogen exchangers that are important for mitochondrial function. Ohgaki et al. … 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. intouch 16 pen trendWebSummary 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 in.touch 2

"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

Slc9a6 gene function

WebView mouse Slc9a6 ChrX:55655117-55709590 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression WebMar 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 …

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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 … WebApr 12, 2024 · The Hypoxia inducible gene domain family member 2A (HIGD2A) protein is indispensable for the assembly of the mitochondrial respiratory supercomplex, which has been implicated in cell proliferation and cell survival under hypoxic conditions. Because the liver has a naturally low oxygen microenvironment, the role of HIGD2A in the development …

WebSep 1, 2024 · Gene Summary: DBD Genes Classification SLC9A6 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic … 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.

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 … 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 …

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 …

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, … intouch2012永久授权WebMay 3, 2016 · Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, microcephaly and impaired ocular movements. It shares many common features with Angelman syndrome. Carrier females … intouch 2012 永久授权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 … new listings houses boca ratonWebJun 1, 2016 · Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech,... intouch 2012WebDec 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... new listings howard county neWebMar 25, 2024 · SLC9A6 encodes the Na+/H+ exchanger protein NHE6. This protein regulates the luminal pH of early and recycling endosomes involved in the trafficking of proteins essential for structural and functional plasticity at glutamatergic synapses 4. NHE6 has an important role in the growth of dendritic spines and the development of normal brain … new listings houses for sale thames coastWebLoss of function causes Christianson syndrome. Sodium/hydrogen exchanger 6 is an integral membrane protein that in humans is encoded by the SLC9A6 gene. It was originally thought to be a mitochondrial-targeted protein, but subsequent studies have localized it to the plasma membrane and recycling endosomes. new listings houses for sale berwick pa