STAR5 Rabbit Polyclonal Antibody, 20ul Mammalian Expression Mutations in this gene have

Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease

and has been shown to have anti-neurodegenerative properties

Mutations in STXBP1 have been associated with infantile epileptic encephalopathy-4

Low expression is present in other adult and fetal tissues and specific adult brain regions

The encoded protein (coenzyme Q8B) has a complete protein kinase catalytic domain

STAR5 Rabbit Polyclonal Antibody, 20ul Mammalian Expression Mutations in this gene haveProteins containing a steroidogenic acute regulatory related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol derived molecules related to the cholesterol