| Gene Symbol | PAX8 |
| Entrez Gene ID | 7849 |
| Full Name | paired box 8 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]. |
| Disorder MIM: | |
| Disorder Html: | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3) |

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