This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about SH3 domain and tetratricopeptide repeat-containing protein 2.
| Human | |
|---|---|
| Gene Name: | SH3TC2 |
| Uniprot: | Q8TF17 |
| Entrez: | 79628 |

| Belongs to: |
|---|
| No superfamily |

SH3 domain and tetratricopeptide repeats 2
Mass (kDA):
144.777 kDA

| Human | |
|---|---|
| Location: | 5q32 |
| Sequence: | 5; NC_000005.10 (148982150..149063062, complement) |
Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.



PMID: 14574644 by Senderek J., et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
PMID: 20220177 by Lupski J.R., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.