NHE-6 Polyclonal Antibody

caution:Was initially identified as a mitochondrial inner membrane protein (PubMed:9507001), but was later shown to be localized in early and recycling endosomes and not mitochondria (PubMed:11940519).,disease:Defects in SLC9A6 are the cause of mental retardation syndromic X-linked Christianson type (MRXSC) [MIM:300243]; also known as MRXS-Christianson or X-linked Angelman-like syndrome. The phenotype is characterized by profound mental retardation, epilepsy, ataxia, and microcephaly, and showed phenotypic overlap with Angelman syndrome.,function:Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.,similarity:Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.,subcellular location:Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.,tissue specificity:Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.,