MSX1: A Key Regulator in Craniofacial and Tooth Development
Comprehensive genomic and clinical overview of the MSX1 gene
Gene Information Card
| Symbol | MSX1 |
|---|---|
| Full Name | msh homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.2 |
| NCBI Gene ID | 4487 ncbi.nlm.nih.gov/gene/4487 |
| Ensembl ID | ENSG00000163132 |
| UniProt ID | P28360 |
| OMIM ID | 142983 |
| HGNC ID | 7391 |
| Aliases | HOX7, Hox-7.1, MSX-1 |
Description
MSX1 (msh homeobox 1) is a homeobox-containing transcription factor that plays a critical role in embryonic development, particularly in craniofacial morphogenesis, tooth development, and limb formation. It acts as a transcriptional repressor and is involved in the regulation of cell proliferation, differentiation, and apoptosis. Mutations in MSX1 are associated with tooth agenesis (selective, with or without orofacial clefts) and Witkop syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tooth agenesis, selective, 1 (STHAG1) | Loss-of-function mutations in MSX1 disrupt tooth development pathways, leading to missing teeth (primarily premolars and third molars). | OMIM #106600; ClinVar |
| Witkop syndrome (tooth and nail syndrome) | MSX1 mutations cause abnormal development of teeth and nails, likely due to impaired epithelial-mesenchymal interactions. | OMIM #189500; ClinVar |
| Orofacial cleft (nonsyndromic) | MSX1 variants contribute to cleft lip with or without cleft palate through disrupted craniofacial patterning. | OMIM #608874; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Muscle | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Salivary gland | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Urinary bladder | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9 (embryonic stem cells) | 0.0 | Not detected |
| HeLa (cervical carcinoma) | 0.0 | Not detected |
| K562 (leukemia) | 0.0 | Not detected |
| MCF7 (breast cancer) | 0.0 | Not detected |
| SH-SY5Y (neuroblastoma) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.251G>A (p.Arg84Gln) | Missense | Rare | Loss of DNA-binding ability; associated with tooth agenesis |
| c.559C>T (p.Arg187Ter) | Nonsense | Rare | Premature truncation; loss of function; associated with Witkop syndrome |
| c.469C>T (p.Arg157Ter) | Nonsense | Rare | Loss of function; associated with tooth agenesis and orofacial clefts |
| c.1A>G (p.Met1Val) | Missense (start loss) | Rare | Loss of translation initiation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MSX1 mutations are loss-of-function, including nonsense, frameshift, and missense variants that disrupt DNA binding or protein stability, leading to haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MSX1.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg84Gln) may act in a dominant-negative manner by interfering with wild-type MSX1 function, though haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• Wnt signaling pathway (Reactome: R-HSA-195721)
• FGF signaling pathway (Reactome: R-HSA-190236)
• Craniofacial development (GeneCards)
Protein Summary
MSX1 encodes a 297-amino acid homeobox transcription factor that localizes to the nucleus. It contains a highly conserved homeodomain that binds DNA and represses transcription. The protein is essential for epithelial-mesenchymal interactions during tooth and craniofacial development. MSX1 interacts with other transcription factors (e.g., PAX9, DLX5) and is regulated by BMP, FGF, and Wnt signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSX1 Knockout HEK293 Cell Line | EDJ-KQ3191 | Human | 4487 | Details Get a Quote |
| MSX1 Knockout A-549 Cell Line | EDJ-KQ24637 | Human | 4487 | Details Get a Quote |
| MSX1 Knockout HCT 116 Cell Line | EDJ-KQ24638 | Human | 4487 | Details Get a Quote |
| MSX1 Knockout HeLa Cell Line | EDJ-KQ24639 | Human | 4487 | Details Get a Quote |
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