MSX2
Function
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter.
Involvement in disease
Parietal foramina 1
PFM1
Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month.
None
The disease is caused by variants affecting the gene represented in this entry.
Parietal foramina with cleidocranial dysplasia
PFMCCD
Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.
None
The disease is caused by variants affecting the gene represented in this entry.
Craniosynostosis 2
CRS2
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Msh homeobox family.
Cellular localization
- Nucleus
Alternative names
HOX8, MSX2, Homeobox protein MSX-2, Homeobox protein Hox-8