TRPS1 Rabbit Polyclonal Antibody | 兔多抗 | EnkiLife恩玑生命

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transcriptional repressor GATA binding 1(TRPS1) Homo sapiens This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008],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.,

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