| Health / Medical Topics |
PAX8 wt Allele
Human PAX8 wild-type allele is located in the vicinity of 2q13 and is approximately 63 kb in length. This allele, which encodes paired box protein Pax-8, plays a role in the regulation of thyroid-specific gene transcription. Mutation of the gene is associated with congenital hypothyroidism non-goitrous type 2, thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. A chromosomal translocation t(2;3)(q13;p25) of this gene and the PPARG gene is associated with a subset of human thyroid follicular carcinomas. (NCI Thesaurus)
YOU MAY ALSO LIKE
This gene is involved in thyroid development and transcriptional regulation.
A fusion protein (828 aa, ~90 kDa) encoded by the PAX7/FOXO1 fusion gene. This protein is comprised of the N-terminal DNA binding…
A fusion gene (~2.5 kb) that results from a chromosomal translocation t(1;13)(p36;q14) which fuses intron 7 of the PAX7 gene with intron…
Human PAX7 wild-type allele is located within 1p36.2-p36.12 and is approximately 105 kb in length. This allele, which encodes paired box gene…
This gene plays a role in the transcriptional regulation of target genes. It is involved in pattern formation during embryogenesis.
Human PAX6 wild-type allele is located in the vicinity of 11p13 and is approximately 29 kb in length. This allele, which encodes…
