TBCD7 Rabbit Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in this gene have

Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS)

and a short C-terminal tail

Binds HTLV1 Tax

Post-translational modifications decrease the ability to chaperone

It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates

TBCD7 Rabbit Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in this gene haveThis gene encodes a member of the TBC domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1 TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus