||ORF Nucleotide Sequence (Length: 1413bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC032116.2, BQ941246.1,
AL541778.3 and BC010072.2.
This sequence is a reference standard in the RefSeqGene project.
On Nov 15, 2004 this sequence version replaced gi:18105049.
Summary: This gene encodes a muscle-specific class III intermediate
filament. Homopolymers of this protein form a stable
intracytoplasmic filamentous network connecting myofibrils to each
other and to the plasma membrane. Mutations in this gene are
associated with desmin-related myopathy, a familial cardiac and
skeletal myopathy (CSM), and with distal myopathies. [provided by
RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: BC032116.2, U59167.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: full length.