SMAL1 Rabbit Polyclonal Antibody, 100ul Serum Defects in this gene may

Defects in this gene may be a cause of certain epilepsies

The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane

Beare-Stevenson cutis gyrata syndrome

Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex

and non-small cell lung cancer

SMAL1 Rabbit Polyclonal Antibody, 100ul Serum Defects in this gene mayThe 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