RB27A Polyclonal Antibody, 100ul Centrifuges Mutations in C9 cause component

Mutations in C9 cause component C9 deficiency

SMUG1 encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA

TCEB3 encodes the protein elongin A

the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation

and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts

RB27A Polyclonal Antibody, 100ul Centrifuges Mutations in C9 cause componentThe protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.