The antibody recognizes the C-term of TRPS1.
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].
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Protein Aliases: Tricho-rhino-phalangeal syndrome type I protein; trichorhinophalangeal syndrome I; trichorhinophalangeal syndrome I homolog; Zinc finger protein GC79; Zinc finger transcription factor Trps1
Gene Aliases: AI115454; AI447310; D15Ertd586e; GC79; LGCR; TRPS1
UniProt ID: (Human) Q9UHF7