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MODY 4 arises from mutations of the PDX1 homeobox gene on chromosome 13. Pdx-1 is a transcription factor vital to the development of the embryonic pancreas. Even in adults it continues to play a role in the regulation and expression of genes for insulin, GLUT2, glucokinase, and somatostatin.
Most Pax genes contain a homeobox and a paired domain that also binds DNA to increase binding specificity, though some Pax genes have lost all or part of the homeobox sequence. [46] Pax genes function in embryo segmentation, nervous system development, generation of the frontal eye fields, skeletal development, and formation of face structures.
n/a Ensembl ENSG00000185960 n/a UniProt O15266 n/a RefSeq (mRNA) n/a n/a RefSeq (protein) NP_000442 NP_006874 n/a Location (UCSC) n/a n/a PubMed search n/a Wikidata View/Edit Human The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present ...
Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene. [5] [6] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic ...
Homeobox protein CDX-2 is a protein that in humans is encoded by the CDX2 gene. The CDX-2 protein is a homeobox transcription factor expressed in the nuclei of intestinal epithelial cells, [5] [6] playing an essential role in the development and function of the digestive system. CDX2 is part of the ParaHox gene cluster, a group of three highly ...
SHOX2 is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA-binding domain. Homeobox proteins have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species.
The homeobox gene clusters studied by Ed Lewis were named the Hox genes, although many more homeobox genes are encoded by animal genomes than those in the Hox gene clusters. The homeotic-function of certain proteins was first postulated to be that of a "selector" as proposed by Antonio Garcia-Bellido . [ 11 ]
3207 15396 Ensembl ENSG00000005073 ENSMUSG00000038210 UniProt P31270 P31311 RefSeq (mRNA) NM_005523 NM_010450 RefSeq (protein) NP_005514 NP_034580 Location (UCSC) Chr 7: 27.18 – 27.19 Mb Chr 6: 52.22 – 52.22 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Homeobox protein Hox-A11 is a protein that in humans is encoded by the HOXA11 gene. Function In vertebrates, the genes ...