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]
Function:
Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.
Subcellular Location:
Endosome membrane. 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.
SWISS:
Q92581
Gene ID:
10479
Database links:
Entrez Gene: 10479 Human
Entrez Gene: 236794 Mouse
Entrez Gene: 302863 Rat
Omim: 300231 Human
SwissProt: Q92581 Human
Unigene: 62185 Human
Unigene: 17815 Mouse
Unigene: 25009 Rat
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