| Gene Symbol | PAX1 |
| Entrez Gene ID | 5075 |
| Full Name | paired box 1 |
| Synonyms | HUP48,OFC2 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]. |
| Disorder MIM: | |
| Disorder Html: | ?Otofaciocervical syndrome 2, 615560 (3) |
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