其他名称： MSX2; HOX8; Homeobox protein MSX-2; Homeobox protein Hox-8
实测条带： 28kD
功能： disease:Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) [MIM:604757]; also known as craniosynostosis Boston-type (CSB). CRS2 is an autosomal dominat disorder characterized by the premature fusion of calvarial sutures. The craniosynostosis phenotype is 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.,disease:Defects in MSX2 are the cause of parietal foramina 1 (PFM1) [MIM:168500]; also known as foramina parietalia permagna (FPP). PFM1 is an 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.,disease:Defects in MSX2 are the cause of parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]; also known as cleidocranial dysplasia with parietal foramina. PFMCCD combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.,function:Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE).,similarity:Belongs to the Msh homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with MINT (By similarity). Interacts with G22P1 (Ku70) and XRCC5 (Ku80).,
其他名称： MSX2; HOX8; Homeobox protein MSX-2; Homeobox protein Hox-8
实测条带： 28kD
功能： disease:Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) [MIM:604757]; also known as craniosynostosis Boston-type (CSB). CRS2 is an autosomal dominat disorder characterized by the premature fusion of calvarial sutures. The craniosynostosis phenotype is 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.,disease:Defects in MSX2 are the cause of parietal foramina 1 (PFM1) [MIM:168500]; also known as foramina parietalia permagna (FPP). PFM1 is an 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.,disease:Defects in MSX2 are the cause of parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]; also known as cleidocranial dysplasia with parietal foramina. PFMCCD combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.,function:Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE).,similarity:Belongs to the Msh homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with MINT (By similarity). Interacts with G22P1 (Ku70) and XRCC5 (Ku80).,
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