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| Cat.No | ACP10139 | Target Name | TTC7A |
|---|---|---|---|
| Target Synonyms | TTC7A; KIAA1140; TTC7Tetratricopeptide repeat protein 7A; TPR repeat protein 7A | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Protein Length | Partial |
| 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 | Q9ULT0 |
|---|
Uniprot Id
Q9ULT0
Target Species
Human
Target Name
TTC7A
Target Full Name
Tetratricopeptide repeat protein 7A
Target Function
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions.
Target Involvement
Gastrointestinal defects and immunodeficiency syndrome (GIDID)
Target Subcellular Location
Cytoplasm. Cell membrane.
Target Tissue Specificity
Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level).
Target Synonyms
TTC7A; KIAA1140; TTC7Tetratricopeptide repeat protein 7A; TPR repeat protein 7A
Target Background
This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants.
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