SPTB explained

Spectrin beta chain, erythrocyte is a protein that in humans is encoded by the SPTB gene.^{[1] [2]}

Further reading

• Bennett V, Baines AJ . Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues . Physiological Reviews . 81 . 3 . 1353–92 . July 2001 . 11427698 . 10.1152/physrev.2001.81.3.1353. 15307181 .
• Kanzaki A, Rabodonirina M, Yawata Y, Wilmotte R, Wada H, Ata K, Yamada O, Akatsuka J, Iyori H, Horiguchi M . A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216) . Blood . 80 . 8 . 2115–21 . October 1992 . 10.1182/blood.V80.8.2115.2115 . 1391962 . free .
• Speicher DW, Weglarz L, DeSilva TM . Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site . The Journal of Biological Chemistry . 267 . 21 . 14775–82 . July 1992 . 10.1016/S0021-9258(18)42107-2 . 1634521 . free .
• Gallagher PG, Tse WT, Costa F, Scarpa A, Boivin P, Delaunay J, Forget BG . A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain . The Journal of Biological Chemistry . 266 . 23 . 15154–9 . August 1991 . 10.1016/S0021-9258(18)98598-4 . 1840591 . free .
• Tse WT, Lecomte MC, Costa FF, Garbarz M, Feo C, Boivin P, Dhermy D, Forget BG . Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association . The Journal of Clinical Investigation . 86 . 3 . 909–16 . September 1990 . 1975598 . 296810 . 10.1172/JCI114792 .
• Yoon SH, Kentros CG, Prchal JT . Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism . Gene . 91 . 2 . 297–302 . July 1990 . 1976574 . 10.1016/0378-1119(90)90104-Y .
• Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG . Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation . The Journal of Clinical Investigation . 88 . 1 . 76–81 . July 1991 . 2056132 . 296005 . 10.1172/JCI115307 .
• Tse WT, Gallagher PG, Pothier B, Costa FF, Scarpa A, Delaunay J, Forget BG . An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216) . Blood . 78 . 2 . 517–23 . July 1991 . 10.1182/blood.V78.2.517.517 . 2070088 . free .
• Winkelmann JC, Chang JG, Tse WT, Scarpa AL, Marchesi VT, Forget BG . Full-length sequence of the cDNA for human erythroid beta-spectrin . The Journal of Biological Chemistry . 265 . 20 . 11827–32 . July 1990 . 10.1016/S0021-9258(19)38473-X . 2195026 . free .
• Winkelmann JC, Costa FF, Linzie BL, Forget BG . Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus . The Journal of Biological Chemistry . 265 . 33 . 20449–54 . November 1990 . 10.1016/S0021-9258(17)30525-2 . 2243099 . free .
• Coetzer T, Palek J, Lawler J, Liu SC, Jarolim P, Lahav M, Prchal JT, Wang W, Alter BP, Schewitz G . Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis . Blood . 75 . 11 . 2235–44 . June 1990 . 10.1182/blood.V75.11.2235.2235 . 2346784 . free .
• Winkelmann JC, Leto TL, Watkins PC, Eddy R, Shows TB, Linnenbach AJ, Sahr KE, Kathuria N, Marchesi VT, Forget BG . Molecular cloning of the cDNA for human erythrocyte beta-spectrin . Blood . 72 . 1 . 328–34 . July 1988 . 10.1182/blood.V72.1.328.328 . 3390609 . free .
• Prchal JT, Morley BJ, Yoon SH, Coetzer TL, Palek J, Conboy JG, Kan YW . Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin . Proceedings of the National Academy of Sciences of the United States of America . 84 . 21 . 7468–72 . November 1987 . 3478706 . 299317 . 10.1073/pnas.84.21.7468 . 1987PNAS...84.7468P . free .
• Pothier B, Morlé L, Alloisio N, Ducluzeau MT, Caldani C, Féo C, Garbarz M, Chaveroche I, Dhermy D, Lecomte MC . Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis . Blood . 69 . 6 . 1759–65 . June 1987 . 10.1182/blood.V69.6.1759.1759 . 3580577 . free .
• Wolfe LC, John KM, Falcone JC, Byrne AM, Lux SE . A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis . The New England Journal of Medicine . 307 . 22 . 1367–74 . November 1982 . 6215583 . 10.1056/NEJM198211253072203 .
• Speicher DW, Marchesi VT . Erythrocyte spectrin is many homologous triple helical segments . Nature . 311 . 5982 . 177–80 . 1984 . 6472478 . 10.1038/311177a0 . 4340715 .
• Carlier MF, Simon C, Cassoly R, Pradel LA . Interaction between microtubule-associated protein tau and spectrin . Biochimie . 66 . 4 . 305–11 . April 1984 . 6743699 . 10.1016/0300-9084(84)90007-5 .
• Goodman SR, Shiffer KA, Casoria LA, Eyster ME . Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis . Blood . 60 . 3 . 772–84 . September 1982 . 10.1182/blood.V60.3.772.772 . 7104494 . free .
• Schischmanoff PO, Winardi R, Discher DE, Parra MK, Bicknese SE, Witkowska HE, Conboy JG, Mohandas N . Defining of the minimal domain of protein 4.1 involved in spectrin-actin binding . The Journal of Biological Chemistry . 270 . 36 . 21243–50 . September 1995 . 7673158 . 10.1074/jbc.270.36.21243 . free .

Notes and References

1. Fukushima Y, Byers MG, Watkins PC, Winkelmann JC, Forget BG, Shows TB . Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization . Cytogenetics and Cell Genetics . 53 . 4 . 232–3 . Nov 1990 . 2209094 . 10.1159/000132939 .
2. Web site: Entrez Gene: SPTB spectrin, beta, erythrocytic (includes spherocytosis, clinical type I).