SUFU Rabbit anti-Human, Mouse, Rat, Polyclonal, Proteintech

Description

• This gene is a member of the H/ACA snoRNPs gene family
• snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA
• The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins
• The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled bodies in the nucleus
• Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted
• These four H/ACA snoRNP proteins are also components of the telomerase complex
• The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins
• The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction
• Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene
• Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases
• Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita
• Two transcript variants encoding different isoforms have been found for this gene.