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| Cat.No | ACP09807 | Target Name | B9D1 |
|---|---|---|---|
| Target Synonyms | B9D1; MKSR1B9 domain-containing protein 1; MKS1-related protein 1 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Expression Range | 1-204 |
| 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 | Q9UPM9 |
|---|
Uniprot Id
Q9UPM9
Target Species
Human
Target Name
B9D1
Target Full Name
B9 domain-containing protein 1
Target Function
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.
Target Involvement
Meckel syndrome 9 (MKS9); Joubert syndrome 27 (JBTS27)
Target Subcellular Location
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.
Target Protein Families
B9D family
Target Synonyms
B9D1; MKSR1B9 domain-containing protein 1; MKS1-related protein 1
Target Background
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17.
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