SH3TC2 wt Allele

Preferred Label : SH3TC2 wt Allele;

NCIt synonyms : PP12494; SH3 Domain and Tetratricopeptide Repeats 2 wt Allele; CMT4C; MNMN; KIAA1985; SH3 Domain and Tetratricopeptide Domain 2 Gene;

NCIt definition : Human SH3TC2 wild-type allele is located in the vicinity of 5q32 and is approximately 140 kb in length. This allele, which encodes SH3 domain and tetratricopeptide repeat-containing protein 2, plays a role in receptor recycling. Mutations in the gene are associated with mild mononeuropathy of the median nerve and Charcot-Marie-Tooth disease type 4C.;

GenBank Accession Number : AK127248;

Details

Origin ID

C207882;

OMIM relation
- Sh3 domain and tetratricopeptide repeat domain 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q32 [NCIt concept]
gene_plays_role_in_process
- Membrane Protein Traffic [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

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