5msa

Crystal structure of human carbonic anhydrase isozyme XII with 2,3,5,6-Tetrafluoro-4-(propylthio)benzenesulfonamideCrystal structure of human carbonic anhydrase isozyme XII with 2,3,5,6-Tetrafluoro-4-(propylthio)benzenesulfonamide

Structural highlights

5msa is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 1.2Å
Ligands:	, , , ,
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

CAH12_HUMAN Defects in CA12 are the cause of hyperchlorhidrosis isolated (HCHLH) [MIM:143860. HCHLH is a disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat.^[1]

Function

CAH12_HUMAN Reversible hydration of carbon dioxide.

References

↑ Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. Am J Hum Genet. 2010 Nov 12;87(5):713-20. doi: 10.1016/j.ajhg.2010.10.008. Epub, 2010 Oct 28. PMID:21035102 doi:10.1016/j.ajhg.2010.10.008

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OCA

[1] Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. Am J Hum Genet. 2010 Nov 12;87(5):713-20. doi: 10.1016/j.ajhg.2010.10.008. Epub, 2010 Oct 28. PMID:21035102 doi:10.1016/j.ajhg.2010.10.008

[1]

5msa

Crystal structure of human carbonic anhydrase isozyme XII with 2,3,5,6-Tetrafluoro-4-(propylthio)benzenesulfonamideCrystal structure of human carbonic anhydrase isozyme XII with 2,3,5,6-Tetrafluoro-4-(propylthio)benzenesulfonamide

Structural highlights

Disease

Function

See Also

References

Contents

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5msa

Crystal structure of human carbonic anhydrase isozyme XII with 2,3,5,6-Tetrafluoro-4-(propylthio)benzenesulfonamideCrystal structure of human carbonic anhydrase isozyme XII with 2,3,5,6-Tetrafluoro-4-(propylthio)benzenesulfonamide

Structural highlights

Disease

Function

See Also

References

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