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Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19381 Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu19381C Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000023.2, 208973224
Length 1164 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.
Product alpha-sarcoglycan isoform 1 precursor
Comment

Summary: This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_000014.1
CDS 37..1200
Misc Feature(1)97..429
Misc Feature(2)115..1197
Misc Feature(3)order(130..135,316..318,322..324,412..414,418..423)
Misc Feature(4)907..969
Exon (1)1..73
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (2)74..193
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (3)194..348
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (4)349..421
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (5)422..620
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (6)621..783
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (7)784..992
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (8)993..1019
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (9)1020..1212
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (10)1213..1433
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Translation MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL PMFNVHTGERLPPRVDSAQVPLILDQH
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Position Chain Variation Link
6+dbSNP:
6+c, tdbSNP:199527818
19+a, gdbSNP:115380008
21+g, tdbSNP:372130638
29+a, gdbSNP:149296410
98+dbSNP:
98+c, tdbSNP:199804735
137+a, gdbSNP:371675217
139+a, gdbSNP:140629621
191+g, tdbSNP:148132791
193+a, gdbSNP:60407644
208+dbSNP:
208+c, gdbSNP:141953249
213+c, tdbSNP:199902950
225+c, tdbSNP:373770886
265+c, tdbSNP:28933693
266+a, gdbSNP:369340251
277+c, tdbSNP:398123098
328+c, tdbSNP:138945081
329+a, gdbSNP:137852621
343+a, gdbSNP:370819630
356+dbSNP:
356+c, tdbSNP:186669379
364+c, tdbSNP:200137051
365+a, gdbSNP:145697858
385+c, tdbSNP:200075504
386+a, gdbSNP:117672945
402+a, gdbSNP:147739328
422..423+dbSNP:
422..423+, cdbSNP:144356125
444+c, tdbSNP:143551687
445+a, gdbSNP:372210292
446+a, gdbSNP:397514451
453+g, tdbSNP:375282807
complement(457)-t, gdbSNP:35130237
470+c, tdbSNP:372046855
500+g, tdbSNP:61053271
538+a, gdbSNP:199810179
542+a, tdbSNP:376376394
554+c, tdbSNP:143962150
558+c, tdbSNP:148960833
560+c, tdbSNP:137852622
564+c, tdbSNP:1801190
587+a, gdbSNP:142169382
591+a, cdbSNP:201518390
610+c, tdbSNP:387907298
611+a, gdbSNP:200945974
618+a, cdbSNP:199791980
628+dbSNP:
628+a, gdbSNP:375463037
679+c, tdbSNP:76542495
689+a, gdbSNP:201116286
698+a, gdbSNP:138254713
716+c, gdbSNP:201131924
726+c, gdbSNP:139454982
735+c, tdbSNP:201860673
752+a, gdbSNP:398123099
758+a, gdbSNP:372772903
760+a, gdbSNP:200166783
775+a, gdbSNP:143570936
800+dbSNP:
800+c, tdbSNP:138019537
801+a, gdbSNP:376216559
complement(855)-c, adbSNP:35972733
879+a, cdbSNP:149487996
879+a, cdbSNP:386435693
886+c, g, tdbSNP:137852623
887+a, gdbSNP:369359375
905+c, tdbSNP:373312721
926+c, tdbSNP:376589369
930+c, gdbSNP:182535883
940+c, gdbSNP:373603128
965+a, gdbSNP:145252144
969+c, tdbSNP:1801191
1002+dbSNP:
1002+a, gdbSNP:113885623
1017+c, tdbSNP:368522117
1063+dbSNP:
1063+a, gdbSNP:201625981
1071+a, gdbSNP:374989747
1083+c, tdbSNP:199518562
1087+c, tdbSNP:143365858
1089+c, tdbSNP:148373921
1103+c, gdbSNP:141892209
1112+a, cdbSNP:146924667
1144+c, tdbSNP:368243053
1156+a, gdbSNP:35495899
1157+a, gdbSNP:150524482
1168+a, gdbSNP:375692868
1191+c, tdbSNP:183964744
complement(1206)-t, g, c, adbSNP:2696288
1206+a, gdbSNP:386481314
1210+c, gdbSNP:60300808
1247..1248+, cdbSNP:138800403
1257+c, tdbSNP:113535280
1269+c, tdbSNP:1801192
1292+c, tdbSNP:77472740
1318+c, gdbSNP:373595506
1333+g, tdbSNP:1802614
1334+, adbSNP:201486782
1366+a, g, tdbSNP:73987439
Gene SymbolSGCA
Gene Synonym50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Chromosome17
Locus Map17q21
Title [A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy] .
Author Pinel-Gonzalez,A., Montero-Escribano,P., Aladro,Y., Gil-Fournier,B. and Ramiro-Leon,S.
Journal Rev Neurol 56 (11), 590-591 (2013)
Title Founder mutation for alpha-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster .
Author Tetreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP and Brais B.
Journal Can J Neurol Sci 38 (5), 747-752 (2011)
Title Reduced glycosylation of alpha-dystroglycans on carcinoma cells contributes to formation of highly infiltrative histological patterns in prostate cancer .
Author Shimojo H, Kobayashi M, Kamigaito T, Shimojo Y, Fukuda M and Nakayama J.
Journal Prostate 71 (11), 1151-1157 (2011)
Title Loss of dystroglycan function in oesophageal cancer .
Author Parberry-Clark C, Bury JP, Cross SS and Winder SJ.
Journal Histopathology 59 (2), 180-187 (2011)
Title The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation .
Author Babameto-Laku A, Tabaku M, Tashko V, Cikuli M and Mokini V.
Journal Genet. Couns. 22 (4), 377-383 (2011)
Title Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency .
Author Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S and Shin S.
Journal J. Clin. Invest. 96 (3), 1202-1207 (1995)
Title Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity .
Author Piccolo,F., Roberds,S.L., Jeanpierre,M., Leturcq,F., Azibi,K., Beldjord,C., Carrie,A., Recan,D., Chaouch,M., Reghis,A. et al.
Journal Nat. Genet. 10 (2), 243-245 (1995)
Title SH3 domain-mediated interaction of dystroglycan and Grb2 .
Author Yang B, Jung D, Motto D, Meyer J, Koretzky G and Campbell KP.
Journal J. Biol. Chem. 270 (20), 11711-11714 (1995)
Title Human adhalin is alternatively spliced and the gene is located on chromosome 17q21 .
Author McNally EM, Yoshida M, Mizuno Y, Ozawa E and Kunkel LM.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (21), 9690-9694 (1994)
Title Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy .
Author Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM and Romero NB.
Journal Cell 78 (4), 625-633 (1994)

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