background:
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.
Function:
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.
Subcellular Location:
Nucleus
Tissue Specificity:
Expressed in the developing nail bed mesenchyme.
Post-translational modifications:
Sumoylated by PIAS1, desumoylated by SENP1 (By similarity).
DISEASE:
Defects in MSX1 are the cause of tooth agenesis selective type 1 (STHAG1) [MIM:106600]. A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Tooth agenesis selective type 1 can be associated with orofacial cleft in some patients.
Note=MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4.
Defects in MSX1 are the cause of Witkop syndrome (WITS) [MIM:189500]. WITS is a form of ectodermal dyslasia also called tooth-and-nail syndrome or dysplasia of nails with hypodontia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Witkop syndrome is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.
Defects in MSX1 are the cause of non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]; also called non-syndromic cleft lip with or without cleft palate 5. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Similarity:
Belongs to the Msh homeobox family.
Contains 1 homeobox DNA-binding domain.
Database links:
Entrez Gene: 4487 Human
Entrez Gene: 17701 Mouse
Entrez Gene: 81710 Rat
Entrez Gene: 692067 Rhesus monkey
Omim: 142983 Human
SwissProt: Q2VL88 Chimpanzee
SwissProt: O02786 Cow
SwissProt: P2872 Human
SwissProt: P13297 Mouse
SwissProt: Q2VL87 Rhesus monkey
Unigene: 424414 Human
Unigene: 256509 Mouse
Unigene: 18117 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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