Gene Symbol | PAX1 |
Entrez Gene ID | 5075 |
Full Name | paired box 1 |
Synonyms | HUP48,OFC2 |
General protein information |
|
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) |