SPTA1


SPTA1

Spectrin, alpha, erythrocytic 1 (elliptocytosis 2), also known as SPTA1, is a human gene.cite web | title = Entrez Gene: SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6708| accessdate = ]

PBB_Summary
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summary_text = Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia.cite web | title = Entrez Gene: SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6708| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gallagher PG, Forget BG |title=Spectrin genes in health and disease. |journal=Semin. Hematol. |volume=30 |issue= 1 |pages= 4–20 |year= 1993 |pmid= 8094577 |doi=
*cite journal | author=Delaunay J, Dhermy D |title=Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. |journal=Semin. Hematol. |volume=30 |issue= 1 |pages= 21–33 |year= 1993 |pmid= 8434258 |doi=
*cite journal | author=Snásel J, Pichová I |title=The cleavage of host cell proteins by HIV-1 protease. |journal=Folia Biol. (Praha) |volume=42 |issue= 5 |pages= 227–30 |year= 1997 |pmid= 8997639 |doi=
*cite journal | author=Iolascon A, Miraglia del Giudice E, Perrotta S, "et al." |title=Hereditary spherocytosis: from clinical to molecular defects. |journal=Haematologica |volume=83 |issue= 3 |pages= 240–57 |year= 1998 |pmid= 9573679 |doi=
*cite journal | author=De Matteis MA, Morrow JS |title=Spectrin tethers and mesh in the biosynthetic pathway. |journal=J. Cell. Sci. |volume=113 ( Pt 13) |issue= |pages= 2331–43 |year= 2000 |pmid= 10852813 |doi=
*cite journal | author=Delaunay J |title=Molecular basis of red cell membrane disorders. |journal=Acta Haematol. |volume=108 |issue= 4 |pages= 210–8 |year= 2003 |pmid= 12432217 |doi=
*cite journal | author=Dhermy D, Schrével J, Lecomte MC |title=Spectrin-based skeleton in red blood cells and malaria. |journal=Curr. Opin. Hematol. |volume=14 |issue= 3 |pages= 198–202 |year= 2007 |pmid= 17414207 |doi= 10.1097/MOH.0b013e3280d21afd
*cite journal | author=Hentati A, Hu P, Asgharzadeh S, Siddique T |title=Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus. |journal=Hum. Mol. Genet. |volume=1 |issue= 3 |pages= 218 |year= 1993 |pmid= 1339473 |doi=
*cite journal | author=Kanzaki A, Rabodonirina M, Yawata Y, "et al." |title=A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). |journal=Blood |volume=80 |issue= 8 |pages= 2115–21 |year= 1992 |pmid= 1391962 |doi=
*cite journal | author=Gallagher PG, Tse WT, Coetzer T, "et al." |title=A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. |journal=J. Clin. Invest. |volume=89 |issue= 3 |pages= 892–8 |year= 1992 |pmid= 1541680 |doi=
*cite journal | author=Speicher DW, Weglarz L, DeSilva TM |title=Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site. |journal=J. Biol. Chem. |volume=267 |issue= 21 |pages= 14775–82 |year= 1992 |pmid= 1634521 |doi=
*cite journal | author=Alloisio N, Wilmotte R, Morlé L, "et al." |title=Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. |journal=Blood |volume=80 |issue= 3 |pages= 809–15 |year= 1992 |pmid= 1638030 |doi=
*cite journal | author=Kotula L, Laury-Kleintop LD, Showe L, "et al." |title=The exon-intron organization of the human erythrocyte alpha-spectrin gene. |journal=Genomics |volume=9 |issue= 1 |pages= 131–40 |year= 1991 |pmid= 1672285 |doi=
*cite journal | author=Coetzer TL, Sahr K, Prchal J, "et al." |title=Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. |journal=J. Clin. Invest. |volume=88 |issue= 3 |pages= 743–9 |year= 1991 |pmid= 1679439 |doi=
*cite journal | author=Sahr KE, Laurila P, Kotula L, "et al." |title=The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin. |journal=J. Biol. Chem. |volume=265 |issue= 8 |pages= 4434–43 |year= 1990 |pmid= 1689726 |doi=
*cite journal | author=Gallagher PG, Tse WT, Marchesi SL, "et al." |title=A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. |journal=Trans. Assoc. Am. Physicians |volume=104 |issue= |pages= 32–9 |year= 1993 |pmid= 1845156 |doi=
*cite journal | author=Floyd PB, Gallagher PG, Valentino LA, "et al." |title=Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. |journal=Blood |volume=78 |issue= 5 |pages= 1364–72 |year= 1991 |pmid= 1878597 |doi=
*cite journal | author=Shoeman RL, Kesselmier C, Mothes E, "et al." |title=Non-viral cellular substrates for human immunodeficiency virus type 1 protease. |journal=FEBS Lett. |volume=278 |issue= 2 |pages= 199–203 |year= 1991 |pmid= 1991513 |doi=
*cite journal | author=Garbarz M, Tse WT, Gallagher PG, "et al." |title=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. |journal=J. Clin. Invest. |volume=88 |issue= 1 |pages= 76–81 |year= 1991 |pmid= 2056132 |doi=
*cite journal | author=Tse WT, Gallagher PG, Pothier B, "et al." |title=An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). |journal=Blood |volume=78 |issue= 2 |pages= 517–23 |year= 1991 |pmid= 2070088 |doi=

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