S38A8 Rabbit Polyclonal Antibody, 50ul Pathway and Network Analysis also referred to as Nettleship-Falls

also referred to as Nettleship-Falls type ocular albinism

Mutations in this gene result in autosomal dominant Char syndrome

Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6)

TP73 encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development

S38A8 Rabbit Polyclonal Antibody, 50ul Pathway and Network Analysis also referred to as Nettleship-FallsThis gene encodes a putative sodium dependent amino acid proton antiporter. The protein has eleven transmembrane domains an extracellular N terminus and an intracellular C terminal tail. The protein is a member of the SLC38 sodium coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and or anterior segment dysgenesis.