蛋白名称
Zinc finger transcription factor Trps1
免疫原
The antiserum was produced against synthesized peptide derived from human TRPS1. AA range:121-170
特异性
TRPS1 Monoclonal Antibody detects endogenous levels of TRPS1 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
TRPS1; Zinc finger transcription factor Trps1; Tricho-rhino-phalangeal syndrome type I protein; Zinc finger protein GC79
背景
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],
功能
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 domin
