ALMS1 Polyclonal Antibody, 100ul Drug Development and Evaluation Members of this family have

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

proteins and membranes are transported to the endosome where they are sorted for recycling or degradation

This gene encodes the sacsin protein

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Multiple alternatively spliced transcript variants of this gene have been reported

ALMS1 Polyclonal Antibody, 100ul Drug Development and Evaluation Members of this family haveALMS1 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