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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.
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.
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 ...
10481 15408 Ensembl ENSG00000159184 ENSMUSG00000049604 UniProt Q92826 P70321 RefSeq (mRNA) NM_006361 NM_008267 RefSeq (protein) NP_006352 NP_032293 Location (UCSC) Chr 17: 48.72 – 48.73 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse Homeobox protein Hox-B13 is a protein that in humans is encoded by the HOXB13 gene. Function This gene encodes a transcription factor that belongs ...
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 ...
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system.
This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [7]
Other defects that occur due to a mutation of the Otx2 gene include pituitary abnormalities and mental retardation. Abnormal pituitary structure and/or function seem to be the most common feature associated with Otx2 mutations. [11] Otx2 also regulates two other genes, Lhx1 and Dkk1 that also play a role in head morphogenesis. [12]