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8557 TCAP

8557

TCAP

titin-cap

protein-coding

Homo sapiens

基因描述

Type Description
Definition titin-cap

研究结论

Date Results Publications
2019-10-26 10:18:00 limb-girdle muscular dystrophy type 2G appears to be a common form among Bulgarian Muslims. Homozygosity for c.75G>A, p.Trp25X is associated with a homogeneous clinical presentation, but the clinical course and severity of the disease show inter- and intra-familial variation. 29935994
2017-10-14 13:03:00 based on the crystal structure in which Z1Z2 and telethonin1-90 assemble into a 2:1 complex, a single chain fusion protein was designed, comprising two Z1Z2 modules that are connected by flexible linkers N- and C-terminally of the telethonin1-90. Expression of this fusion protein, named ZTZ, affords high yields of soluble expressed and purified protein 28811266
2015-04-25 11:07:00 Data indicate LGMD2G protein TCAP association with limb girdle muscular dystrophy 2G (LGMD2G). 25055047
2014-05-31 11:21:00 Report TCAP mutations in dilated cardiomyopathy. 24037902
2014-03-22 11:42:00 cardiac telethonin is constitutively bis-phosphorylated and suggest that such phosphorylation is critical for normal telethonin function, which may include maintenance of transverse tubule organization and intracellular Ca(2+) transients. 24280220

名称对应

Type IDs
Synonymous CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
Gene
UniProtKB-ID: TELT_HUMAN, A2TDC0_HUMAN
UniprotKB: O15273, A2TDC0
UniParc: UPI0000136BAD
EMBL: AJ010063, AJ000491, CH471152, KU178429, BC012628, AK096328, AJ011098, BC013330, EF179184
Ensembl: ENSG00000173991
KO: hsa:8557
Nucleutide sequences
EMBL-CDS: CAA04129.1, AAH12628.1, CAA09479.1, AAH13330.1, CAA08987.1, EAW60587.1, BAG53261.1, ABN05287.1, ALQ33887.1, EAW60586.1
Gene_ORFName: hCG_30011
Ensembl_TRS: ENST00000309889
Protein sequencees
Ensembl_PRO: ENSP00000312624
RefSeq: NP_003664.1
Others
UniRef100: UniRef100_O15273
UniRef90: UniRef90_O15273
UniRef50: UniRef50_O15273
UniGene: Hs.77628
CCDS: CCDS11342.1

全选

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