slc9a6
Share
  • Official Full Name
  • solute carrier family 9 (sodium/hydrogen exchanger), member 6
  • 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.
  • Synonyms
  • SLC9A6; solute carrier family 9 (sodium/hydrogen exchanger), member 6; solute carrier family 9 (sodium/hydrogen exchanger), isoform 6; sodium/hydrogen exchanger 6; KIAA0267; NHE6; 3732426M05; 6430520C02Rik; mKIAA0267; MRSA; RP23-105E2.4; Na(+)/H(+) exchanger 6; OTTHUMP00000024089; OTTHUMP00000024090; RGD1563582; RP11-274K13.1

SLC9A6 Related Articles

Redin, C; Gerard, B; et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. JOURNAL OF MEDICAL GENETICS 51:724-736(2014).
Pescosolido, MF; Stein, DM; et al. Genetic and Phenotypic Diversity of NHE6 Mutations in Christianson Syndrome. ANNALS OF NEUROLOGY 76:581-593(2014).