| Interacting proteins: P11277 and P02549 |
Pubmed |
SVM Score :0.0 |
| In particular , they involve the SPTA 1 and SPTB genes that encode erythroid spectrin alpha and beta chains , respectively . ^^^ |
|
| Interacting proteins: P11277 and P02549 |
Pubmed |
SVM Score :0.0 |
| HE stems from changes in the SPTA 1 , SPTB , EL 1 and ( exceptionally ) GPYC genes that encode spectrin alpha and beta chains , protein 4 . 1 and glycophorin C / D , respectively . ^^^ HS derives from altercations in the ANK 1 , EPB 3 and ELB 42 genes , encoding ankyrin , band 3 and protein 4 . 2 , respectively , and also in the SPTA 1 and SPTB genes . ^^^ |
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| Interacting proteins: P11277 and P02549 |
Pubmed |
SVM Score :0.0 |
| It derives from alterations of the following genes : ANK 1 , EPB 3 , ELB 42 , SPTA 1 and SPTB . ^^^ |
|
| Interacting proteins: P11277 and P02549 |
Pubmed |
SVM Score :0.0 |
| The mutations of most cases of hereditary spherocytosis ( HS ) are located in the following genes : ANK 1 , SPTB , SLC4A1 , EPB 42 and SPTA 1 , which encode ankyrin , spectrin beta chain , the anion exchanger 1 ( band 3 ) , protein 4 . 2 and spectrin alpha chain , respectively . ^^^ The mutations responsible for hereditary elliptocytosis ( HE ) and its aggravated form , poikilocytosis ( HP ) , lie in the SPTA 1 and SPTB gene , already mentioned , and in the EPB 41 gene encoding protein 4 . 1 . ^^^ Whereas in HS , the SPTA 1 and SPTB gene mutations tend to abolish the synthesis of the corresponding chains , in HE / HP , they hinder spectrin tetramerization . ^^^ |
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| Interacting proteins: P11277 and P02549 |
Pubmed |
SVM Score :0.0 |
| The mutations of most cases of HS are located in the following genes : ANK 1 , SPTB , SLC4A1 , EPB 42 and SPTA 1 , which encode for ankyrin , spectrin beta chain , the anion exchanger 1 ( band 3 ) , protein 4 . 2 and spectrin alpha chain , respectively . ^^^ The mutations responsible for HE and HPP , lie in the SPTA 1 and SPTB gene , and in the EPB 41 gene encoding protein 4 . 1 . ^^^ |
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| Interacting proteins: P11277 and P02549 |
Pubmed |
SVM Score :0.0 |
| Hereditary spherocytosis stems from mutations in one of the genes encoding ankyrin 1 ( ANKI ) , alpha spectrin ( SPTA 1 ) and beta spectrin ( SPTB ) , the anion exchanger 1 ( SLC4A 1 ) , and protein 4 . 2 ( EPB 42 ) . ^^^ Recessive and nondominant cases are mostly found in HS associated with ANK 1 , SPTA 1 and SPTB genes . . ^^^ |
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