SLC12A1 Summary

This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]

SLC12A1 Details

Gene Symbol : SLC12A1

Gene Name : Solute carrier family 12 member 1

Chromosome : CHR 15: 482,063,00-483,040,77

Locus : 15q21.1

---

ADAMTS17 Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

ADAMTS17 Details

Gene Symbol : ADAMTS17

Gene Name : ADAM metallopeptidase with thrombospondin type 1 motif 17

Chromosome : CHR 15: 100,342,923-999,714,37

Locus : 15q26.3

---

Request Pricing

Lorem Ipsum is simply dummy text of the printing and typesetting industry.

Lorem Ipsum is simply dummy text of the printing and typesetting industry.