MKX Gene (Mohawk Homeobox)
A key transcription factor in tendon and muscle development
Gene Information Card
| Symbol | MKX |
|---|---|
| Full Name | Mohawk homeobox |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 283078 ncbi.nlm.nih.gov/gene/283078 |
| Ensembl ID | ENSG00000150051 |
| UniProt ID | Q8IYA7 |
| OMIM ID | 611274 |
| HGNC ID | 29897 |
| Aliases | IRXL1, Mohawk |
Description
The MKX gene encodes a homeobox-containing transcription factor that plays a critical role in the development and maintenance of tendons and muscles. It is essential for proper tendon formation and regulates the expression of tendon-specific genes. Mutations in MKX are associated with skeletal abnormalities and tendon defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tendon hypoplasia | Loss of MKX function impairs tendon progenitor cell differentiation | Mouse models (NCBI) |
| Skeletal muscle defects | Disrupted MKX leads to abnormal muscle fiber organization | Mouse models (NCBI) |
| Craniofacial abnormalities | MKX deficiency affects cranial tendon development | Mouse models (NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tendon | High | High |
| Skeletal muscle | Moderate | Medium |
| Heart | Low | Low |
| Lung | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Tendon fibroblasts | High | Primary tendon cells |
| C2C12 myoblasts | Moderate | Mouse muscle cell line |
| HEK293 | Low | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Altered DNA-binding domain, reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Most MKX mutations result in loss of function, impairing tendon and muscle development.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • tendon development |
| • muscle organ development |
Pathways
• Tendon development pathway
• Muscle cell differentiation
Protein Summary
The MKX protein is a homeobox transcription factor that localizes to the nucleus and binds specific DNA sequences to regulate gene expression. It is crucial for the differentiation and maturation of tendon and muscle cells. The protein contains a conserved homeodomain that mediates DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MKX Knockout HEK293 Cell Line | EDJ-KQ14272 | Human | 283078 | Details Get a Quote |
| MKX Knockout HCT 116 Cell Line | EDJ-KQ44297 | Human | 283078 | Details Get a Quote |
| MKX Knockout HeLa Cell Line | EDJ-KQ44298 | Human | 283078 | Details Get a Quote |
| MKX Knockout A-549 Cell Line | EDJ-KQ67835 | Human | 283078 | Details Get a Quote |
