TRPS1 polyclonal antibody

The autosomal dominant tricho-rhino-phalangeal syndrome type 1 (TRPS1) is a rare disorder clinically characterized by sparse scalp hair, a bulbous nose, protruding ears, a thin upper lip, an elongated philtrum and bone deformities. The human TRPS1 gene maps to chromosome 8q24 and encodes a GATA-type zinc-finger protein. TRPS1 binds GATA sequences but does not activate GATA-dependent transcription. In fact, TRPS1 represses transcriptional activation mediated by other GATA factors. The noncompetitive mechanism for transcriptional repression depends upon an Ikaros-like C-terminal region. In mice, mutations in the GATA domain of TRPS1 cause facial abnormalities that parallel TRPS1 symptoms. TRPS1 is expressed during mouse embryonic development in developing joints, hair follicles, snout, lung, spine and brain.