Symbol
| SLC4A2
| contributors: mct - updated : 30-05-2015
|
HGNC name
| solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
|
HGNC id
| 11028
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
|  
|  
|  
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cause membrane instability, resulting in hereditary spherocytosis and stomatocytosis | constitutional
|  
|  
| --low
|  
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in the bile ducts and hepatocytes in primary biliary cirrhosis (PBC) livers | constitutional
|  
|  
|  
| loss of function
|
during osteoclast differentiation | |
Variant & Polymorphism
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| |
Candidate gene
Marker
Therapy target
| | | |
| osteoclast-targeted deletion in mice of Slc4a2 results in osteopetrosis | |
Mice null for the Ae2 anion exchanger have abnormal enamel |