Gene Symbol | MSX2 |
Entrez Gene ID | 4488 |
Full Name | msh homeobox 2 |
Synonyms | CRS2,FPP,HOX8,MSH,PFM,PFM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Craniosynostosis 2, 604757 (3); Parietal foramina 1, 168500 (3); Parietal foramina with cleidocranial dysplasia, 168550 (3) |