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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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EPB42
erythrocyte membrane protein band 4.2
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.
| Gene Name: | erythrocyte membrane protein band 4.2 |
| Synonyms: | EPB42, E42P, Erythrocyte protein 4.2, p4.2, Pallidin, SPH5, Pa |
| Target Sequences: | NM_000119 NP_000110.2 P16452 |
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