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: cytoplasm; nucleoplasm; nucleus

Molecular Function: p53 binding

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

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