PAX1 è un gene codificato dal simbolo PAX1. Comunemente indicato anche come: Paired box protein Pax-1; HuP48; HUP48. PAX1 ha una massa di 55.5kDa, una lunghezza di amminoacidi di 534, ed è implicato in Otofaciocervical syndrome 2.
Offriamo 9 anticorpi contro PAX1, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e IP con campioni derivati da Umano e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Coinvolgimento nella malattia
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.
Posizione cellulare
Nucleus.
