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| Cat.No | ACP10208 | Target Name | CHD7 |
|---|---|---|---|
| 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 | Q9P2D1 |
|---|
Uniprot Id
Q9P2D1
Target Species
Human
Target Name
CHD7
Target Full Name
Chromodomain-helicase-DNA-binding protein 7
Target Function
Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.
Target Involvement
CHARGE syndrome (CHARGES); Idiopathic scoliosis 3 (IS3); Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)
Target Subcellular Location
[Isoform 1]: Nucleus.; [Isoform 3]: Nucleus, nucleolus.
Target Protein Families
SNF2/RAD54 helicase family
Target Tissue Specificity
Widely expressed in fetal and adult tissues.
Target Synonyms
ATP-dependent helicase CHD7; ATP-dependent helicase chromodomain helicase DNA binding protein 7; CHD-7; Chd7; CHD7_HUMAN; Chromodomain helicase DNA binding protein 7; chromodomain helicase DNA binding protein 7 isoform CRA_e; Chromodomain-helicase-DNA-binding protein 7; FLJ20357; FLJ20361; HH5; IS3; KAL5; KIAA1416
Target Background
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene.
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