The recent implication of SOX10 in WS4 prompted us to test whether this transcription factor, known to cooperate in vitro with PAX3, is also able to regulate expression from the MITF promoter. PAX3 is a member of the paired box family of transcription factors that function during embryogenesis and cancer epigenesis.
6 RefSeqs (NM) Availability. paired box protein Pax-7, paired box gene 7, paired box transcription factor PAX7. GeneRIFs: Gene References Into Functions.
Pax3 Gene Detail Summary Symbol. From NCBI Gene: This gene is a member of the paired box (PAX) family of transcription factors. Bgee i: ENSMUSG00000004872 Expressed in embryo ... Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex. paired box protein Pax-3, PAX3/FKHR fusion, paired box gene 3. Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma in humans and … Species Human Location. PAX7 gene paired box 7. Search by this given TaxonomyID: 1980506, for the HTT gene against the Taxonomy database in NCBI & analyze the result.
Normal Function. PAX3 (Paired Box 3) is a Protein Coding gene. Made to Order. The protein made from the PAX3 gene directs the activity of other genes that signal neural crest cells to form specialized tissues or cell types such as some nerve tissue and pigment-producing cells called melanocytes. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma.
IDs. PAX3. 5077. PAX3-FOXO1results from the stable reciprocal translocation of chromosomes 2 and 13, which fuses in-frame the DNA binding domain of PAX3 with the transactivation domain of FOXO1.
Len. paired box 3. Summary Other designations. PAX3 gene structure, alternative splicing and evolution. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain.
Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma.
2001 ; … Pax3 Name. GeneRIFs: Gene References Into Functions .
Gene. PAX3 has been shown to regulate MITF gene expression. The information on this page was automatically extracted from online scientific databases.
Interacts with TBX18. Interacts with SOX10 (By similarity). (1992) designated exons 2, 3, and 4 because of their correspondence with exons 2, 3, and 4 of the mouse Pax3 gene, which has 5 exons. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. 126 Transcripts. Gene ID: 18509, updated on 9-Jun-2020. These genes play critical roles during fetal development. Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD Synonyms. Gene provides a unified query environment for genes defined by sequence and/or in NCBI's Map Viewer. Interaction Among SOX10, PAX3 and MITF, Three Genes Altered in Waardenburg Syndrome - PubMed Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in 40 000 that manifests with sensorineural deafness and pigmentation defects.
this study shows the variation in muscle stem cells activation rate among …
A lower score means that a gene is more likely to be dependent in a given cell line. Localizes to nucleus. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all …
Barr FG: Oncogene. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1.