AChR Alpha1 Polyclonal Antibody, 20ul[BT-AP00171] Nucleic Acid Amplification Mutations in HSD3B7 are associated

Mutations in HSD3B7 are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis

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AChR Alpha1 Polyclonal Antibody, 20ul[BT-AP00171] Nucleic Acid Amplification Mutations in HSD3B7 are associatedThe muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. CHRNA1 encodes an alpha subunit that plays a role in acetlycholine binding channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.