SH3 domain & tetratricopeptide repeats-containing protein 2 (SH3TC2, KIAA1985, PP12494)
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Structure
- contains 1 SH3 domain contains 8 TPR repeats
Alternative splicing
named isoforms=4
Expression
- expressed in brain, spinal cord, sciatic nerve > striated muscle
Pathology
- defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C)
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q8TF17.html
- ↑ Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTMutations/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3TC2