PAMR1
Peptidase Domain Containing Associated with Muscle Regeneration 1
Gene Information Card
| Symbol | PAMR1 |
|---|---|
| Full Name | Peptidase Domain Containing Associated with Muscle Regeneration 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 25891 ncbi.nlm.nih.gov/gene/25891 |
| Ensembl ID | ENSG00000149090 |
| UniProt ID | Q6ZNE5 |
| OMIM ID | 617054 |
| HGNC ID | 24567 |
| Aliases | DKFZp686O24127, FLJ20171, MGC138290 |
Description
PAMR1 (peptidase domain containing associated with muscle regeneration 1) is a protein-coding gene located on chromosome 11p15.4. It encodes a protein that contains a peptidase domain and is involved in muscle regeneration and development. The gene is expressed in various tissues, with notable expression in skeletal muscle and heart. Mutations in PAMR1 have been associated with muscular dystrophy and other muscle-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy, limb-girdle, autosomal recessive 26 | Loss-of-function mutations in PAMR1 disrupt muscle regeneration pathways | ClinVar, OMIM |
| Myopathy, distal, with rimmed vacuoles | Missense variants impair protein function leading to muscle fiber degeneration | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 0.5 | Not detected |
| Brain | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RD (rhabdomyosarcoma) | 15.0 | High expression |
| C2C12 (mouse myoblast) | 10.2 | Model for muscle differentiation |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; associated with limb-girdle muscular dystrophy |
| c.158G>A (p.Arg53His) | Missense | Unknown | Potential pathogenic; reported in myopathy patients |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, associated with muscular dystrophy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • peptidase activity | • extracellular region |
| • muscle cell differentiation | • proteolysis |
Pathways
• Muscle contraction
• Regulation of actin cytoskeleton
Protein Summary
The PAMR1 protein is a secreted peptidase involved in extracellular matrix remodeling and muscle regeneration. It contains a peptidase domain (M14 family) and is thought to play a role in the degradation of extracellular matrix components during muscle repair. The protein is expressed in skeletal muscle and heart, and its dysfunction leads to impaired muscle regeneration and progressive muscle weakness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAMR1 Knockout HEK293 Cell Line | EDJ-KQ8284 | Human | 25891 | Details Get a Quote |
| PAMR1 Knockout HeLa Cell Line | EDJ-KQ55843 | Human | 25891 | Details Get a Quote |
| PAMR1 Knockout A-549 Cell Line | EDJ-KQ64332 | Human | 25891 | Details Get a Quote |
| PAMR1 Knockout HCT 116 Cell Line | EDJ-KQ72786 | Human | 25891 | Details Get a Quote |
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