Anti-PAX1 Antibody Picoband® Fluoro488 Conjugated

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.

Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment.

1. Hol, F. A., Geurds, M. P. A., Chatkupt, S., Shugart, Y. Y., Balling, R., Schrander-Stumpel, C. T. R. M., Johnson, W. G., Hamel, B. C. J., Mariman, E. C. M. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J. Med. Genet. 33: 655-660, 1996. 2. McGaughran, J. M., Oates, A., Donnai, D., Read, A. P., Tassabehji, M. Mutations in PAX1 may be associated with Klippel-Feil syndrome. Europ. J. Hum. Genet. 11: 468-474, 2003. 3. Pohl, E., Aykut, A., Beleggia, F., Karaca, E., Durmaz, B., Keupp, K., Arslan, E., Palamar, M., Yigit, G., Ozkinay, F., Wollnik, B. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum. Genet. 132: 1311-1320, 2013. Note: Erratum: Hum. Genet. 132: 1321 only, 2013.