MSX1 Antibody – Rabbit Polyclonal

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]

MSX1: Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity. Expressed in the developing nail bed mesenchyme. Belongs to the Msh homeobox family.

Protein type: Motility/polarity/chemotaxis; DNA-binding

Chromosomal Location of Human Ortholog: 4p16.2

Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleus

Molecular Function: p53 binding

Biological Process: embryonic forelimb morphogenesis; negative regulation of striated muscle cell differentiation; transcription from RNA polymerase II promoter; muscle development; protein stabilization; in utero embryonic development; regulation of odontogenesis; mesenchymal cell proliferation; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; palate development; middle ear morphogenesis; embryonic hindlimb morphogenesis; odontogenesis of dentine-containing teeth; anterior/posterior pattern formation; negative regulation of cell proliferation; pituitary gland development; midbrain development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of cell growth; positive regulation of BMP signaling pathway; negative regulation of apoptosis

Disease: Orofacial Cleft 5; Witkop Syndrome; Tooth Agenesis, Selective, 1