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| Cat.No | ACP13943 | Target Name | MCPH1 |
|---|---|---|---|
| Target Synonyms | BRCT repeat inhibitor of TERT expression 1; BRIT 1; FLJ12847; Hypothetical protein FLJ12847; MCPH 1; MCPH1; MCPH1_HUMAN; MCT; Microcephalin 1; Microcephalin; Microcephaly primary autosomal recessive 1 | 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 | Q8NEM0 |
|---|
Uniprot Id
Q8NEM0
Target Species
Human
Target Name
MCPH1
Target Full Name
Microcephalin
Target Function
Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.
Target Involvement
Microcephaly 1, primary, autosomal recessive (MCPH1)
Target Subcellular Location
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
Target Tissue Specificity
Expressed in fetal brain, liver and kidney.
Target Synonyms
BRCT repeat inhibitor of TERT expression 1; BRIT 1; FLJ12847; Hypothetical protein FLJ12847; MCPH 1; MCPH1; MCPH1_HUMAN; MCT; Microcephalin 1; Microcephalin; Microcephaly primary autosomal recessive 1
Target Background
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.
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