SMAL1 Rabbit Polyclonal Antibody, 50ul Drying & Desiccation Mutations in this gene cause

Mutations in this gene cause Darier-White disease

Alternatively spliced transcript variants have been found in this gene

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Members of this family contain a phox (PX) domain| which is a phosphoinositide binding domain| and are involved in intracellular trafficking

and may play a role in wound healing

SMAL1 Rabbit Polyclonal Antibody, 50ul Drying & Desiccation Mutations in this gene causeThe protein encoded by this gene is a member of the SWI SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD) an autosomal recessive