WebSep 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 … 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 Gene - GeneCards SL9A6 Protein SL9A6 …

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). 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. canning ltd

Mutation in the SLC9A6 gene is not a frequent cause of sporadic ...

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 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 … WebSLC9A6 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 fix this tablet