PAX1

PAX1 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.

Full Name

Paired Box 1

Function

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).

Biological Process

Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Skeletal system developmentManual Assertion Based On ExperimentTAS:ProtInc
Transcription by RNA polymerase IIManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Nucleus

Involvement in disease

Otofaciocervical syndrome 2, with T-cell deficiency (OTFCS2):
An autosomal recessive 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. Some patients also exhibit altered thymus development with T-cell immunodeficiency.