Na+ CP type II Alpha Polyclonal Antibody, 50ul[BT-AP05752] Liquid Storage Consumables Mutations in this gene result

Mutations in this gene result in epimerase-deficiency galactosemia| also referred to as galactosemia type 3| a disease characterized by liver damage| early-onset cataracts| deafness and mental retardation| with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form)

also called 7B4 and cadherin‑5 (CDH5)

signal transduction and transepithelial transport

The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation

Na+ CP type II Alpha Polyclonal Antibody, 50ul[BT-AP05752] Liquid Storage Consumables Mutations in this gene resultVoltage gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. SCN2A encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in SCN2A have been linked to several seizure