SH3TC2
Sign in to saveAlso known as CMT4C, MNMN, SH3 domain and tetratricopeptide repeats 2
SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene. It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.
Gene data
SH3TC2- Name
- SH3 domain and tetratricopeptide repeats 2
- Type
- protein-coding
- Aliases
- CMT4C, MNMN
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].
via MyGene.info
Gene · Ensembl
SH3 domain and tetratricopeptide repeats 2
- Symbol
- SH3TC2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:148,923,639-149,063,163
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 11596
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/79628
- genomic end
- 148442726
- genomic start
- 148303202
- chromosome
- human chromosome 5
- cytogenetic location
- 5q32
- genetic association
- carpal tunnel syndrome
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene. It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.
== Function ==
Excerpted from Wikipedia’s “SH3TC2” article, available under the CC BY-SA 4.0 licence.