MYZAP: Myocardial Zonula Adherens Protein
Gene encoding a component of the cardiac intercalated disc, implicated in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.
Gene Information Card
| Symbol | MYZAP |
|---|---|
| Full Name | myocardial zonula adherens protein |
| Gene Type | protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 100820829 ncbi.nlm.nih.gov/gene/100820829 |
| Ensembl ID | ENSG00000259384 |
| UniProt ID | A0A0A0MS14 |
| OMIM ID | 617638 |
| HGNC ID | 40015 |
| Aliases | MYZAP, C15orf52, MYZAP1 |
Description
MYZAP (myocardial zonula adherens protein) encodes a protein localized to the intercalated disc of cardiac muscle cells, where it contributes to cell-cell adhesion and mechanical coupling. Mutations in MYZAP have been associated with dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Disruption of intercalated disc integrity leading to impaired contractility | ClinVar, OMIM |
| Arrhythmogenic right ventricular cardiomyopathy | Altered cell adhesion and electrical coupling in cardiomyocytes | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 3.2 | Low |
| Liver | 0.8 | Not detected |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 15.0 | High expression |
| HeLa | 0.2 | Not detected |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg148*) lead to truncated protein and loss of adherens junction function.
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)
| • adherens junction (GO:0005912) | • cell-cell adherens junction (GO:0005913) |
| • cell adhesion (GO:0007155) | • cell junction (GO:0030054) |
| • apical junction complex (GO:0043297) |
Pathways
• Cell-cell junction organization (Reactome: R-HSA-421270)
• Adherens junction (KEGG: hsa04520)
Protein Summary
MYZAP is a 45 kDa protein that localizes to the intercalated disc of cardiomyocytes, interacting with components of the adherens junction such as cadherins and catenins. It is essential for maintaining mechanical and electrical coupling between cardiac cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYZAP Knockout HEK293 Cell Line | EDJ-KQ14351 | Human | 100820829 | Details Get a Quote |
| MYZAP Knockout A-549 Cell Line | EDJ-KQ44466 | Human | 100820829 | Details Get a Quote |
| MYZAP Knockout HCT 116 Cell Line | EDJ-KQ44467 | Human | 100820829 | Details Get a Quote |
| MYZAP Knockout HeLa Cell Line | EDJ-KQ44468 | Human | 100820829 | Details Get a Quote |
