ALMS1 Polyclonal Antibody, 100ul Drug Development and Evaluation The N-terminal region is required

The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity

Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease

This gene is expressed in the testis and its protein is localized to the flagella of the sperms| indicating that it may play a role in spermatogenesis

This gene encodes the sacsin protein

ALMS1 Polyclonal Antibody, 100ul Drug Development and Evaluation The N-terminal region is requiredALMS1 encodes a protein containing a large tandem repeat domain as well as additional low complexity regions. The encoded protein (ALMS1, centrosome and basal body associated protein) functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations ALMS1 cause Alstrom syndrome. There is a pseudogene for ALMS1 located adjacent in the same region of chromosome 2. Alternative splice variants have been described but