GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: CA9

id768
symbolCA9
organismHomo sapiens
full namecarbonic anhydrase 9
summaryCarbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
variant-disease

NC_000009.11:g.(?_34458984)_(35809462_?)del AND Hyperphosphatasia with mental retardation syndrome 2

NC_000009.11:g.(?_34458984)_(35809462_?)dup AND Hyperphosphatasia with mental retardation syndrome 2

GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 AND See cases

NC_000009.11:g.(?_34645556)_(36277059_?)dup AND Anauxetic dysplasia

NC_000009.11:g.(?_34458984)_(36277059_?)dup AND multiple conditions

... 61 more


Partner site page.capturescreenshot on site-shot.com.