Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene. [5] [6] [7]
This gene encodes a GATA-like 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 (also known as the Langer–Giedion syndrome). [8]
Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells.
Transcription factor JunD is a protein that in humans is encoded by the JUND gene.
GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. It regulates many genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming, lympathic system-forming, and other tissue-forming stem cells. GATA2 is encoded by the GATA2 gene, a gene which often suffers germline and somatic mutations which lead to a wide range of familial and sporadic diseases, respectively. The gene and its product are targets for the treatment of these diseases.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
Transcription factor GATA-6, also known as GATA-binding factor 6 (GATA6), is protein that in humans is encoded by the GATA6 gene. The gene product preferentially binds (A/T/C)GAT(A/T)(A) of the consensus binding sequence.
SON protein is a protein that in humans is encoded by the SON gene.
T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene.
Zinc finger protein 148 is a protein that in humans is encoded by the ZNF148 gene.
Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene.
Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.
RING finger protein 4 is a protein that in humans is encoded by the RNF4 gene.
Zinc finger protein 10 is a protein that in humans is encoded by the ZNF10 gene.
Zinc finger and BTB domain-containing protein 32 is a protein that in humans is encoded by the 1960 bp ZBTB32 gene. The 52 kDa protein is a transcriptional repressor and the gene is expressed in T and B cells upon activation, but also significantly in testis cells. It is a member of the Poxviruses and Zinc-finger (POZ) and Krüppel (POK) family of proteins, and was identified in multiple screens involving either immune cell tumorigenesis or immune cell development.
Zinc finger protein 34 is a protein that in humans is encoded by the ZNF34 gene.
Serine/threonine-protein kinase PRKY is an enzyme that in humans is encoded by the PRKY gene.
Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.
Tricho–rhino–phalangeal syndrome type 2 is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.
Protein FAM83A also known as tumor antigen BJ-TSA-9 is a protein that in humans is encoded by the FAM83A gene.
MAX dimerization protein 3 is a protein that in humans is encoded by the MXD3 gene located on Chromosome 5.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.