Recombinant Human Paired box protein Pax-1 (PAX1)

Uniprot Id

P15863

Target Species

Human

Target Name

PAX1

Target Full Name

Paired box protein Pax-1

Target 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.

Target Involvement

Otofaciocervical syndrome 2 (OTFCS2)

Target Subcellular Location

Nucleus.

Target Synonyms

HUP48; OTTHUMP00000030407; Paired box 1; Paired box gene 1; Paired box protein Pax 1; Paired box protein Pax-1; Paired domain gene HuP48; PAX 1; Pax1; PAX1_HUMAN

Target Background

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.