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Description

The SH3TC2 gene (SH3 domain and tetratricopeptide repeats 2) [HGNC Gene ID:29427] is located on chromosome 5q32. 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] [NCBI Gene ID:79628] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
SH3TC2 gene
Part Display Name
SH3TC2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-08-09
Construct for LOINC Short Name
SH3TC2 gene

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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)SH3TC2 基因
Synonyms: SH3 domain and tetratricopeptide repeats 2;SH3 结构域和三角四肽重复序列;SH3 结构域和三角形四肽重复序列;SH3 结构域和四联重复肽;四联重复肽（tetratricopeptide，TRP）
et-EEEstonian (Estonia)SH3TC2 geen
es-ESSpanish (Spain)Gen SH3TC2
it-ITItalian (Italy)SH3TC2, gene
Synonyms: Gene SH3TC2
tr-TRTurkish (Turkey)SH3TC2 geni
ru-RURussian (Russian Federation)SH3TC2 ген
nl-NLDutch (Netherlands)SH3TC2-gen
Synonyms: SH3TC2 gen
fr-FRFrench (France)SH3TC2 gène
pl-PLPolish (Poland)SH3TC2 gen
Synonyms: Gen SH3TC2
el-GRGreek (Greece)Γονίδιο SH3TC2
Synonyms: Γονίδιο SH3TC2