CSRP3 Gene - Cysteine and Glycine Rich Protein 3
Cardiac LIM domain protein involved in muscle development and cardiomyopathy
Gene Information Card
| Symbol | CSRP3 |
|---|---|
| Full Name | Cysteine and Glycine Rich Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 8048 ncbi.nlm.nih.gov/gene/8048 |
| Ensembl ID | ENSG00000129170 |
| UniProt ID | P50461 |
| OMIM ID | 600824 |
| HGNC ID | 2471 |
| Aliases | MLP, CRP3, CMD1M, CMH12 |
Description
CSRP3 encodes the cysteine and glycine-rich protein 3, also known as muscle LIM protein (MLP). This protein is a key component of the cardiac muscle Z-disc and plays a critical role in mechanosensation, muscle development, and sarcomere assembly. Mutations in CSRP3 are associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy 1M (CMD1M) | Loss-of-function mutations disrupt Z-disc integrity and mechanotransduction, leading to impaired cardiac contractility | ClinVar, OMIM |
| Hypertrophic Cardiomyopathy 12 (CMH12) | Dominant-negative or gain-of-function mutations alter sarcomere structure, causing myocardial hypertrophy | ClinVar, OMIM |
| Cardiomyopathy, familial restrictive | Rare missense variants affect protein stability and cardiac compliance | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.1 | High |
| Esophagus | 6.3 | Low |
| Adipose Tissue | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 52.0 | High expression |
| Skeletal muscle myoblasts (C2C12) | 41.5 | High expression |
| HEK293 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.69C>A (p.Cys23Ter) | Nonsense | Rare | Loss of function; associated with DCM |
| c.194G>A (p.Arg65His) | Missense | Rare | Dominant-negative; associated with HCM |
| c.403C>T (p.Arg135Trp) | Missense | Rare | Gain of function; associated with HCM |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, impairing Z-disc function and causing DCM.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg135Trp) that enhance protein stability or alter binding, leading to hypertrophic signaling.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg65His) that disrupt normal protein interactions, interfering with wild-type CSRP3 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (Reactome: R-HSA-397014)
• Striated muscle contraction (Reactome: R-HSA-390522)
• Integrin signaling pathway (KEGG: hsa04510)
Protein Summary
CSRP3 encodes the muscle LIM protein (MLP), a 194-amino acid protein containing two LIM zinc-binding domains. MLP localizes to the Z-disc of cardiac and skeletal muscle sarcomeres, where it acts as a mechanosensor and scaffold for signaling molecules. It is essential for maintaining sarcomere integrity and regulating cardiac hypertrophy. Mutations in CSRP3 disrupt these functions, leading to cardiomyopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSRP3 Knockout HEK293 Cell Line | EDJ-KQ6163 | Human | 8048 | Details Get a Quote |
| CSRP3 Knockout HeLa Cell Line | EDJ-KQ54817 | Human | 8048 | Details Get a Quote |
| CSRP3 Knockout A-549 Cell Line | EDJ-KQ63307 | Human | 8048 | Details Get a Quote |
| CSRP3 Knockout HCT 116 Cell Line | EDJ-KQ71777 | Human | 8048 | Details Get a Quote |
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