SLC9A8

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
Identifiers
Symbols SLC9A8 ; NHE-8; NHE8
External IDs OMIM612730 MGI1924281 HomoloGene75041 GeneCards: SLC9A8 Gene
RNA expression pattern
PBB GE SLC9A8 212947 at tn.png
PBB GE SLC9A8 gnf1h01982 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23315 77031
Ensembl ENSG00000197818 ENSMUSG00000039463
UniProt Q9Y2E8 Q8R4D1
RefSeq (mRNA) NM_001260491 NM_148929
RefSeq (protein) NP_001247420 NP_683731
Location (UCSC) Chr 20:
48.43 – 48.51 Mb
Chr 2:
167.42 – 167.48 Mb
PubMed search [1] [2]

Sodium/hydrogen exchanger 8 is a protein that in humans is encoded by the SLC9A8 gene.[1][2]


Model organisms[edit]

Model organisms have been used in the study of SLC9A8 function. A conditional knockout mouse line, called Slc9a8tm1a(KOMP)Wtsi[6][7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[8][9][10]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty one tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant animals had abnormal retinal morphology and pigmentation.[4]

See also[edit]

References[edit]

  1. ^ Goyal S, Vanden Heuvel G, Aronson PS (Jan 2003). "Renal expression of novel Na+/H+ exchanger isoform NHE8". Am J Physiol Renal Physiol 284 (3): F467–73. doi:10.1152/ajprenal.00352.2002. PMID 12409279. 
  2. ^ "Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8". 
  3. ^ "Eye morphology data for Slc9a8". Wellcome Trust Sanger Institute. 
  4. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. 
  5. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  6. ^ "International Knockout Mouse Consortium". 
  7. ^ "Mouse Genome Informatics". 
  8. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  9. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  10. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  11. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]