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2fnk
From Proteopedia
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{{STRUCTURE_2fnk| PDB=2fnk | SCENE= }} | {{STRUCTURE_2fnk| PDB=2fnk | SCENE= }} | ||
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===Activation of Human Carbonic Anhydrase II by exogenous proton donors=== | ===Activation of Human Carbonic Anhydrase II by exogenous proton donors=== | ||
| + | {{ABSTRACT_PUBMED_17071654}} | ||
| - | + | ==Disease== | |
| + | [CAH2_HUMAN] Defects in CA2 are the cause of osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation. | ||
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| + | ==Function== | ||
| + | [CAH2_HUMAN] Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. | ||
==About this Structure== | ==About this Structure== | ||
Revision as of 07:50, 21 March 2013
Contents |
Activation of Human Carbonic Anhydrase II by exogenous proton donors
Template:ABSTRACT PUBMED 17071654
Disease
[CAH2_HUMAN] Defects in CA2 are the cause of osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.
Function
[CAH2_HUMAN] Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye.
About this Structure
2fnk is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Bhatt D, Fisher SZ, Tu C, McKenna R, Silverman DN. Location of binding sites in small molecule rescue of human carbonic anhydrase II. Biophys J. 2007 Jan 15;92(2):562-70. Epub 2006 Oct 27. PMID:17071654 doi:http://dx.doi.org/10.1529/biophysj.106.093203
