PAX1 gene

paired box 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2012]

From 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.

From NCBI Gene:

  • Otofaciocervical syndrome 2

From UniProt:

Otofaciocervical syndrome 2 (OTFCS2): 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. [MIM:615560]

Cytogenetic Location: 20p11.22, which is the short (p) arm of chromosome 20 at position 11.22

Molecular Location: base pairs 21,705,659 to 21,718,486 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p11.22, which is the short (p) arm of chromosome 20 at position 11.22
  • HUP48
  • OFC2