Summary
Performance
Immunogen
Application
Background
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. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010],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.,
Research Area
Cardiac muscle contraction;
