MYOZ1
Myozenin 1: A Z-disk protein involved in muscle function and associated with cardiomyopathy
Gene Information Card
| Symbol | MYOZ1 |
|---|---|
| Full Name | Myozenin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 58529 ncbi.nlm.nih.gov/gene/58529 |
| Ensembl ID | ENSG00000119977 |
| UniProt ID | Q9NP98 |
| OMIM ID | 608599 |
| HGNC ID | HGNC:13380 |
| Aliases | Calsarcin-2, FATZ-1, CS-2 |
Description
MYOZ1 (myozenin 1) encodes a member of the myozenin family, which are Z-disk proteins expressed predominantly in cardiac and skeletal muscle. Myozenin 1 (also known as calsarcin-2 or FATZ-1) interacts with calcineurin and alpha-actinin, playing a role in muscle cell signaling and sarcomere organization. It is involved in the regulation of muscle growth and response to stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy (DCM) | MYOZ1 mutations may disrupt Z-disk integrity and calcineurin signaling, leading to impaired contractility and dilation | ClinVar, OMIM |
| Hypertrophic cardiomyopathy (HCM) | Altered myozenin 1 function can affect sarcomere assembly and calcium handling, contributing to hypertrophy | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 23.1 | High |
| Skeletal muscle | 18.5 | High |
| Esophagus | 1.2 | Low |
| Adipose tissue | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 22.0 | High expression |
| Skeletal muscle myoblasts | 15.3 | Moderate expression |
| HEK 293 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.361C>T (p.Arg121Trp) | Missense | <0.01% | Likely pathogenic in DCM; disrupts calcineurin binding |
| c.472G>A (p.Glu158Lys) | Missense | <0.01% | Uncertain significance; reported in HCM |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants (e.g., nonsense, frameshift) are rare and may reduce Z-disk stability, contributing to dilated cardiomyopathy.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MYOZ1.
Dominant Negative (DN)
Dominant-negative effects are hypothesized for missense mutations that disrupt protein-protein interactions at the Z-disk.
View complete mutation data：
Gene Ontology (GO)
| • Z disc | • calmodulin binding |
| • actin binding | • skeletal muscle contraction |
| • cardiac muscle contraction | • calcineurin binding |
Pathways
• Cardiac muscle contraction
• Calcineurin-NFAT signaling pathway
• Sarcomere organization
Protein Summary
Myozenin 1 is a 299-amino acid protein localized to the Z-disk of cardiac and skeletal muscle sarcomeres. It contains a calcineurin-binding domain and an alpha-actinin-binding region, linking calcium signaling to sarcomere structure. The protein is essential for maintaining muscle integrity and adaptive responses to mechanical stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOZ1 Knockout HEK293 Cell Line | EDJ-KQ14349 | Human | 58529 | Details Get a Quote |
| MYOZ1 Knockout HeLa Cell Line | EDJ-KQ56951 | Human | 58529 | Details Get a Quote |
| MYOZ1 Knockout A-549 Cell Line | EDJ-KQ65457 | Human | 58529 | Details Get a Quote |
| MYOZ1 Knockout HCT 116 Cell Line | EDJ-KQ73893 | Human | 58529 | Details Get a Quote |
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