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Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_024301 Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. ORF Sequence $431.52
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RefSeq Version NM_024301.4, 209574323
Length 3422 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.
Product fukutin-related protein
Comment

Summary: This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008].


Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

RefSeq NP_077277.1
CDS 298..1785
Misc Feature(1)229..231
Misc Feature(2)316..384
Misc Feature(3)316..384
Misc Feature(4)1297..1719
Exon (1)1..45
Gene:FKRP
Gene Synonym:LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5
Exon (2)46..107
Gene:FKRP
Gene Synonym:LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5
Exon (3)108..258
Gene:FKRP
Gene Synonym:LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5
Exon (4)259..3422
Gene:FKRP
Gene Synonym:LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5
Translation MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFD NAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETY VATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTA RYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTF AAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWD YDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPF YPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIEN PQYPNPALLSLTGSG
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Position Chain Variation Link
49+dbSNP:
49+c, tdbSNP:189133927
52+a, gdbSNP:181509391
110+dbSNP:
110+g, tdbSNP:186129206
114+g, tdbSNP:112119770
192+c, tdbSNP:181239325
244..246+, actdbSNP:36215246
254+c, tdbSNP:1693995
264+dbSNP:
264+c, tdbSNP:3201779
365+a, gdbSNP:201951207
384+c, gdbSNP:112243410
419+g, tdbSNP:201497063
432+c, tdbSNP:2287717
457+c, g, tdbSNP:28937905
489+c, tdbSNP:111754012
531+c, tdbSNP:145283847
532+a, gdbSNP:104894683
546+c, tdbSNP:149030303
638+c, gdbSNP:143793528
697+c, tdbSNP:104894690
724+a, cdbSNP:148206382
753+c, gdbSNP:199714523
817+a, tdbSNP:200990647
864+c, tdbSNP:201454433
882+c, tdbSNP:75079578
903+a, gdbSNP:140084192
955+a, cdbSNP:201648309
960+a, cdbSNP:28937902
1061+a, gdbSNP:104894689
1119+c, gdbSNP:77138370
1123+a, cdbSNP:28937900
1196+c, tdbSNP:104894691
1216+a, tdbSNP:104894692
1223+a, gdbSNP:104894679
1235+g, tdbSNP:200025577
1243+a, cdbSNP:28937901
1250+a, gdbSNP:104894684
1317+c, tdbSNP:77351928
1370+c, tdbSNP:143031195
1412+g, tdbSNP:151156902
1433+a, gdbSNP:140217866
1441+a, gdbSNP:60831455
1451+a, c, tdbSNP:104894680
1468+a, gdbSNP:138952096
1474+a, gdbSNP:140679502
1476+a, gdbSNP:145894568
1510+g, tdbSNP:28937904
1533+c, tdbSNP:201076863
1560+c, tdbSNP:138350337
1567+a, cdbSNP:149552274
1603+c, tdbSNP:144236975
1622+c, tdbSNP:148318216
1640+c, tdbSNP:104894681
1661+a, cdbSNP:28937903
1684+a, gdbSNP:121908110
1702+c, tdbSNP:143129484
1737+c, tdbSNP:115365212
1762+c, tdbSNP:112819526
1783+a, tdbSNP:104894682
1851+a, gdbSNP:185647378
2083+c, tdbSNP:73060707
2093+a, tdbSNP:116045816
2183+a, gdbSNP:114529423
2605+c, gdbSNP:114279721
2855+a, gdbSNP:143495212
3105+a, cdbSNP:116772963
3186+a, gdbSNP:147197243
3355+a, tdbSNP:79237838
3356+a, tdbSNP:77120601
Gene SymbolFKRP
Gene SynonymLGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5
Chromosome19
Locus Map19q13.32
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001039885 Homo sapiens fukutin related protein (FKRP), transcript variant 2, mRNA. Full Length $1215.90
ORF Sequence $431.52
NM_024301 Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. Full Length $1197.70
ORF Sequence $431.52
Title The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I) .
Author Yilmaz,A., Gdynia,H.J., Ponfick,M., Ludolph,A.C., Rosch,S. and Sechtem,U.
Journal Clin Res Cardiol 100 (7), 611-615 (2011)
Title SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients .
Author Papic,L., Fischer,D., Trajanoski,S., Hoftberger,R., Fischer,C., Strobel,T., Schmidt,W.M., Bittner,R.E., Schabhuttl,M., Gruber,K., Pieber,T.R., Janecke,A.R. and Auer-Grumbach,M.
Journal Eur J Med Genet 54 (3), 214-219 (2011)
Title Asian patients with limb girdle muscular dystrophy 2I (LGMD2I) .
Author Hong,D., Zhang,W., Wang,W., Wang,Z. and Yuan,Y.
Journal J Clin Neurosci 18 (4), 494-499 (2011)
Title Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I .
Author Stensland,E., Lindal,S., Jonsrud,C., Torbergsen,T., Bindoff,L.A., Rasmussen,M., Dahl,A., Thyssen,F. and Nilssen,O.
Journal Neuromuscul. Disord. 21 (1), 41-46 (2011)
Title Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction .
Author Alhamidi,M., Kjeldsen Buvang,E., Fagerheim,T., Brox,V., Lindal,S., Van Ghelue,M. and Nilssen,O.
Journal PLoS ONE 6 (8), E22968 (2011)
Title Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C .
Author Brockington,M., Yuva,Y., Prandini,P., Brown,S.C., Torelli,S., Benson,M.A., Herrmann,R., Anderson,L.V., Bashir,R., Burgunder,J.M., Fallet,S., Romero,N., Fardeau,M., Straub,V., Storey,G., Pollitt,C., Richard,I., Sewry,C.A., Bushby,K., Voit,T., Blake,D.J. and Muntoni,F.
Journal Hum. Mol. Genet. 10 (25), 2851-2859 (2001)
Title Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan .
Author Brockington,M., Blake,D.J., Prandini,P., Brown,S.C., Torelli,S., Benson,M.A., Ponting,C.P., Estournet,B., Romero,N.B., Mercuri,E., Voit,T., Sewry,C.A., Guicheney,P. and Muntoni,F.
Journal Am. J. Hum. Genet. 69 (6), 1198-1209 (2001)
Title Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and .
Author Talim,B., Ferreiro,A., Cormand,B., Vignier,N., Oto,A., Gogus,S., Cila,A., Lehesjoki,A.E., Pihko,H., Guicheney,P. and Topaloglu,H.
Journal Neuromuscul. Disord. 10 (8), 548-552 (2000)
Title Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? .
Author Mercuri,E., Sewry,C.A., Brown,S.C., Brockington,M., Jungbluth,H., DeVile,C., Counsell,S., Manzur,A. and Muntoni,F.
Journal Neuropediatrics 31 (4), 186-189 (2000)
Title A single human myosin light chain kinase gene (MLCK; MYLK) .
Author Lazar,V. and Garcia,J.G.
Journal Genomics 57 (2), 256-267 (1999)

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