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| Cat.No | ACP19302 | Target Name | ZNF713 |
|---|---|---|---|
| Target Synonyms | ZNF713; Zinc finger protein 713 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Expression Range | 1-430 |
| Protein Length | Full length protein | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q8N859 |
|---|
Uniprot Id
Q8N859
Target Species
Human
Target Name
ZNF713
Target Full Name
Zinc finger protein 713
Target Function
May be involved in transcriptional regulation.
Target Involvement
A 7p11.2 folate-sensitive fragile site, FRA7A, has been identified in 2 unrelated families diagnosed with an autistic disorder. FRA7A is associated with a CGG-repeat expansion in a ZNF713 5'-intron. In the first family, the expanded allele contained about 450 CGG-repeats. It showed hypermethylation and reduced ZNF713 expression. In the second family, 3 autistic siblings exhibited a heterozygous expansion of about 70 repeats, corresponding to premutations, which were partially or mosaically methylated. Mitotic instability of the premutation was observed in one affected sibling. In this family, ZNF713 tends to be up-regulated. It has been suggested that ZNF713 misregulation in the brain might be involved in the pathogenicity of autistic disorder (PubMed:25196122).
Target Subcellular Location
Nucleus.
Target Protein Families
Krueppel C2H2-type zinc-finger protein family
Target Tissue Specificity
Expressed in fetal and adult brain.
Target Synonyms
ZNF713; Zinc finger protein 713
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