Human chromosome 21 has been extensively studied because trisomy 21 causes Down syndrome. In addition to this syndrome, chromosome
21 is the loci for five other hereditary disorders, myoclonus epilepsy, autoimmune polyglandular disease type I, nonsyndromic hereditary
deafness, Knobloch syndrome, and bipolar affective disorder. Exon trapping studies of human chromosome 21q22.3 identified transcriptional
units with homology to the zebrafish ES1 and the E. coli sigma cross-reacting protein 27A (SCRP27A). The human ES1 homolog (HES1) was
also identified as KNP-1α/KNP-1β, as well as GT335 in similar screens for genes involved in disorders that map to chromosome 21q22.3.
KNP-1/HES1 mRNA is ubiquitously expressed with the highest expression in muscle and heart. KNP-1/HES1 protein contains putative
mitochondrial targeting signals and localizes to mitochondria in mouse NIH 3T3 cells. Interestingly, mitochondrial deletions have been
implicated in syndromes related to deafness. Thus, KNP-1/HES1 may be a mitochondrial protein important for normal development, and may
be a candidate gene for disorders related to deletions at chromosome 21q22.3.
原厂资料:
注意事项:
1.Since applications vary, each investigator should titrate the reagent to obtain optimal results.
2.Caution: Sodium azide yields highly toxic hydrazoic acid under acidic conditions. Dilute azide compounds in running water before discarding to avoid accumulation of potentially explosive deposits in plumbing.