PAX1 ist ein Gen, das durch das Symbol PAX1 kodiert wird. Im Allgemeinen auch bezeichnet als: Paired box protein Pax-1; HuP48; HUP48. PAX1 hat eine Masse von 55.5kDa, eine Aminosäurelänge von 534, und ist an Otofaciocervical syndrome 2 beteiligt.
Wir bieten 8 antikörper gegen PAX1, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Otofaciocervical syndrome 2: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.
