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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 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 ...
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 ...
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.
Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [6] Msx2 is a homeobox gene localized on human chromosome 5 that encodes a transcription repressor and activator (MSX-2) responsible for craniofacial and limb-bud development. Cells will express msx2 when exposed to signaling molecules BMP-2 and BMP-4 in ...
Growth hormone deficiency in childhood commonly has no identifiable cause (idiopathic), and adult-onset GHD is commonly due to pituitary tumours and their treatment or to cranial irradiation. [9] A more complete list of causes includes: mutations of specific genes (e.g., GHRHR, GH1)
This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17 . The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized ...
In humans, the NKX3-1 gene is located on chromosome 8p21.2 with 4 exons. [7] The 8p chromosome is a region that is frequently reported to undergo a loss of heterozygosity (LOH) associated with tissue dedifferentiation and loss of androgen responsiveness during the progression of prostate cancer.