SOX7 Polyclonal Antibody, 50ul Cellular Function Assays Mutations in MBTPS1 may be

Mutations in MBTPS1 may be associated with lysosomal dysfunction

PAH uptake is inhibited by benzothiazolylcysteine (BTC)

Alternate splicing of the gene results in several transcript variants encoding different isoforms

phosphatidylinositol 3-kinase and STAT transcription factors

SOX7 Polyclonal Antibody, 50ul Cellular Function Assays Mutations in MBTPS1 may beThis gene encodes a member of the SOX (SRY related HMG box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless type MMTV integration site family