PAX1 est un gène codé par le symbole PAX1. Communément appelé aussi: Paired box protein Pax-1; HuP48; HUP48. PAX1 a une masse de 55.5kDa, une longueur d'acide aminé de 534, et est impliqué dans Otofaciocervical syndrome 2.
Nous proposons 8 des anticorps contre PAX1, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et IP avec des échantillons dérivés de Humain et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Implication dans la maladie
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.
Localisation cellulaire
Nucleus.
