TRPS1 Polyclonal Antibody

disease:A chromosomal aberration involving TRPS1 is a cause of tricho-rhino-phalangeal syndrome type II (TRPS2) [MIM:150230]. TRPS2 is a contiguous gene syndrome due to deletions in chromosome 8q24.1 and resulting in the loss of functional copies of TRPS1 and EXT1.,disease:Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type I (TRPS1) [MIM:190350]. TRPS1 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type III. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature.,disease:Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type III (TRPS3) [MIM:190351]. TRPS3 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type I. In TRPS3 a more severe brachydactyly and growth retardation are observed.,function:Transcriptional repressor. May act to restrict expression of GATA-regulated genes at selected sites and stages in vertebrate development. Might be involved in prostate cancer apoptosis.,similarity:Contains 1 GATA-type zinc finger.,similarity:Contains 7 C2H2-type zinc fingers.,subunit:Binds specifically to GATA sequences.,tissue specificity:Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.,