LMOD3 Gene
Leiomodin 3: A Key Regulator of Actin Filament Assembly in Skeletal Muscle
Gene Information Card
| Symbol | LMOD3 |
|---|---|
| Full Name | Leiomodin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 56203 ncbi.nlm.nih.gov/gene/56203 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q9P2K2 |
| OMIM ID | 616112 |
| HGNC ID | 6649 |
| Aliases | FLJ12681, leiomodin-3 |
Description
LMOD3 encodes leiomodin 3, a member of the tropomodulin/leiomodin family. It is predominantly expressed in skeletal muscle and functions as an actin filament nucleator and elongator, essential for sarcomere assembly and maintenance. Mutations in LMOD3 cause nemaline myopathy type 10 (NEM10), a severe congenital muscle disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nemaline Myopathy 10 (NEM10) | Loss-of-function mutations impair actin filament nucleation, leading to disrupted sarcomere structure and nemaline rod formation. | OMIM #616112; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 58.2 | High |
| Heart | 3.1 | Low |
| Brain | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myotubes | 62.5 | Differentiated primary cells |
| RD (rhabdomyosarcoma) | 4.8 | Low expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416*) | Nonsense | Rare (found in multiple families) | Premature stop; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
| c.1312_1313del (p.Leu438Glufs*2) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most LMOD3 mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein function, causing nemaline myopathy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • structural constituent of cytoskeleton (GO:0005200) |
| • actin filament (GO:0005884) | • muscle filament sliding (GO:0030049) |
| • actin filament severing (GO:0051014) |
Pathways
• Actin nucleation and elongation (Reactome: R-HSA-5663222)
• Sarcomere organization (Reactome: R-HSA-5250913)
Protein Summary
Leiomodin 3 is a 628-amino acid protein localized to the sarcomere's thin filament pointed end. It contains a tropomodulin-like N-terminal domain and a C-terminal actin-binding domain. LMOD3 nucleates actin filaments independently of the Arp2/3 complex and promotes elongation, critical for maintaining sarcomere length and muscle contractility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELMOD3 Knockout HEK293 Cell Line | EDJ-KQ10002 | Human | 84173 | Details Get a Quote |
| LMOD3 Knockout HEK293 Cell Line | EDJ-KQ14092 | Human | 56203 | Details Get a Quote |
| ELMOD3 Knockout A-549 Cell Line | EDJ-KQ36970 | Human | 84173 | Details Get a Quote |
| ELMOD3 Knockout HCT 116 Cell Line | EDJ-KQ36971 | Human | 84173 | Details Get a Quote |
| ELMOD3 Knockout HeLa Cell Line | EDJ-KQ36972 | Human | 84173 | Details Get a Quote |
| LMOD3 Knockout HeLa Cell Line | EDJ-KQ56720 | Human | 56203 | Details Get a Quote |
| LMOD3 Knockout A-549 Cell Line | EDJ-KQ65225 | Human | 56203 | Details Get a Quote |
| LMOD3 Knockout HCT 116 Cell Line | EDJ-KQ73663 | Human | 56203 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
