HMGB3 Rabbit Polyclonal Antibody, 100ul Miscellaneous Mutations in this gene lead

Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex

one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain

COP9 signalosome subunit 3 encoded by COPS3 possesses kinase activity that phosphorylates regulators involved in signal transduction

also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins

HMGB3 Rabbit Polyclonal Antibody, 100ul Miscellaneous Mutations in this gene leadThis gene encodes a member of a family of proteins containing one or more high mobility group DNA binding motifs. The encoded protein plays an important role in maintaining stem cell populations and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants.