Species: Human
Specificity/Sensitivity: The peptide was used in the production of GTX89097.
Form: Lyophilized powder
Buffer (with preservative): Reconstitute with 200μl distilled water to obtain a 0.5mg/ml peptide solution. Lyophilized from 5% (v/v) acetonitrile/H₂O, no preservative.
Background: This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Region Sequence: C-KRKRESESESDETPP
Full Name: dyskeratosis congenita 1, dyskerin
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