| Protein Name | erythrocyte membrane protein band 4.2 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2038 |
| Gene Symbol | EPB42 |
| UniProt | P16452 (EPB42_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
120
Total Number of Articles : 124 |
Description |
erythrocyte membrane protein band 4.2 |
| Gene Summary |
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
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| Properties | |