ID:SL9A6_HUMAN DESCRIPTION: RecName: Full=Sodium/hydrogen exchanger 6; AltName: Full=Na(+)/H(+) exchanger 6; Short=NHE-6; AltName: Full=Solute carrier family 9 member 6; FUNCTION: Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. SUBCELLULAR LOCATION: Endosome membrane; Multi-pass membrane protein. Note=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. 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. SIMILARITY: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. CAUTION: Was originally (PubMed:9507001) identified as a mitochondrial inner membrane protein, but was later shown to be localized in early and recycling endosomes and not mitochondria (PubMed:11940519).
Protein Domain and Structure Information
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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