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SRPX  -  sushi-repeat containing protein, X-linked

Homo sapiens

Synonyms: DRS, ETX1, HEL-S-83p, SRPX1, Sushi repeat-containing protein SRPX
 
 
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Disease relevance of SRPX

 

High impact information on SRPX

  • A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa [1].
  • Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3) [2].
  • Colonic motility was assessed using a manometric catheter (affixed endoscopically to the splenic flexure) at baseline, during DRS, and after DRS [3].
  • These manometric changes in response to DRS were accompanied by expulsion of barium oatmeal paste in every subject by the fifth DRS [3].
  • Stimulation of the anal canal and lower rectum, accomplished using a gloved finger (so-called digital rectal stimulation or DRS) is often used as an adjunct to laxatives and enemas to facilitate bowel evacuation [3].
 

Biological context of SRPX

  • The genotypes (a 75-kb deletion on the X chromosome spanning the RPGR gene and the first exon of the SRPX gene, and a stop mutation (G52X) in the RPGR gene) have been reported previously [4].
 

Other interactions of SRPX

  • Psychophysics detected a slightly more pronounced affection of the rod system compared to the cone system in both the hemizygous males and the carrier with the deletion of the RPGR gene and the first exon of the SRPX gene [4].
 

Analytical, diagnostic and therapeutic context of SRPX

  • Vanadia species on aluminas (delta- and gamma-Al2O3) with surface VOx density in the range 0.01-14.2 V/nm2 have been characterized by UV and visible Raman spectroscopy, UV-visible diffuse reflectance spectroscopy (UV-Vis DRS), and temperature-programmed reduction in hydrogen [5].

References

  1. A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. Meindl, A., Carvalho, M.R., Herrmann, K., Lorenz, B., Achatz, H., Lorenz, B., Apfelstedt-Sylla, E., Wittwer, B., Ross, M., Meitinger, T. Hum. Mol. Genet. (1995) [Pubmed]
  2. Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3). Dry, K.L., Aldred, M.A., Edgar, A.J., Brown, J., Manson, F.D., Ho, M.F., Prosser, J., Hardwick, L.J., Lennon, A.A., Thomson, K. Hum. Mol. Genet. (1995) [Pubmed]
  3. Anorectal stimulation causes increased colonic motor activity in subjects with spinal cord injury. Korsten, M.A., Singal, A.K., Monga, A., Chaparala, G., Khan, A.M., Palmon, R., Mendoza, J.R., Lirio, J.P., Rosman, A.S., Spungen, A., Bauman, W.A. The journal of spinal cord medicine (2007) [Pubmed]
  4. Phenotype in two families with RP3 associated with RPGR mutations. Lorenz, B., Andrassi, M., Kretschmann, U. Ophthalmic Genet. (2003) [Pubmed]
  5. On the structure of vanadium oxide supported on aluminas: UV and visible raman spectroscopy, UV-visible diffuse reflectance spectroscopy, and temperature-programmed reduction studies. Wu, Z., Kim, H.S., Stair, P.C., Rugmini, S., Jackson, S.D. The journal of physical chemistry. B, Condensed matter, materials, surfaces, interfaces & biophysical. (2005) [Pubmed]
 
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