||ORF Nucleotide Sequence (Length: 3867bp)
||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)
||SH3 domain and tetratricopeptide repeat-containing protein 2
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA856608.1, AY341075.1,
AC011364.4, AC116312.2 and AF086088.1.
This sequence is a reference standard in the RefSeqGene project.
On May 4, 2006 this sequence version replaced gi:38488691.
Summary: This gene encodes a protein with two N-terminal Src
homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR)
motifs, and is a member of a small gene family. The gene product
has been proposed to be an adapter or docking molecule. Mutations
in this gene result in autosomal recessive Charcot-Marie-Tooth
disease type 4C, a childhood-onset neurodegenerative disease
characterized by demyelination of motor and sensory neurons.
[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 :: AY341075.1, BC113879.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: full length.