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- Table of Contents
Facts about SH3 domain and tetratricopeptide repeat-containing protein 2.
Human | |
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Gene Name: | SH3TC2 |
Uniprot: | Q8TF17 |
Entrez: | 79628 |
Belongs to: |
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No superfamily |
SH3 domain and tetratricopeptide repeats 2
Mass (kDA):
144.777 kDA
Human | |
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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.