ALMS1 Polyclonal Antibody, 100ul Drug Development and Evaluation Mutations in this gene and

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

Multiple alternatively spliced transcript variants of this gene have been reported

The protein encoded by TCP1 (t-complex 1) is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT)

Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif| a central Sec7 domain| and a C-terminal pleckstrin homology (PH) domain

ALMS1 Polyclonal Antibody, 100ul Drug Development and Evaluation Mutations in this gene andALMS1 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