KLHL41 Gene
Kelch Like Family Member 41
Gene Information Card
| Symbol | KLHL41 |
|---|---|
| Full Name | Kelch Like Family Member 41 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 10324 ncbi.nlm.nih.gov/gene/10324 |
| Ensembl ID | ENSG00000162946 |
| UniProt ID | O60662 |
| OMIM ID | 607701 |
| HGNC ID | 16905 |
| Aliases | KBTBD10, SARCOSIN, MGC33887 |
Description
KLHL41 encodes a member of the kelch-like protein family characterized by a BTB/POZ domain and kelch repeats. The protein is involved in actin binding and plays a critical role in skeletal muscle development and sarcomere assembly. Mutations in this gene are associated with nemaline myopathy, a congenital muscle disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nemaline Myopathy 9 (NEM9) | Loss-of-function mutations disrupt actin filament organization, leading to nemaline rod formation in muscle fibers. | OMIM #617066; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 58.2 | High |
| Heart | 14.1 | Medium |
| Esophagus | 6.3 | Low |
| Thyroid | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal Muscle Myoblasts | 42.5 | High expression |
| Cardiomyocytes | 12.0 | Moderate expression |
| Fibroblasts | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1516C>T (p.Arg506*) | Nonsense | Rare | Loss of function; associated with NEM9 |
| c.1222_1223del (p.Leu408Glufs*3) | Frameshift | Rare | Loss of function; associated with NEM9 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with NEM9 |
Mutation functional classification
Loss of Function (LOF)
Most reported KLHL41 mutations are loss-of-function (nonsense, frameshift, start loss) leading to truncated or absent protein, causing nemaline myopathy.
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)
| • actin binding (GO:0003779) | • BTB domain binding (GO:0019904) |
| • ubiquitin protein ligase activity (GO:0061630) | • skeletal muscle contraction (GO:0003009) |
| • sarcomere organization (GO:0045214) |
Pathways
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
• Actin cytoskeleton regulation (Reactome R-HSA-5663220)
Protein Summary
KLHL41 is a 604-amino acid protein containing an N-terminal BTB/POZ domain and six C-terminal kelch repeats. It functions as a substrate-specific adaptor for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for degradation. In skeletal muscle, it regulates actin dynamics and sarcomere integrity. Loss of function leads to nemaline myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL41 Knockout HEK293 Cell Line | EDJ-KQ7007 | Human | 10324 | Details Get a Quote |
| KLHL41 Knockout HeLa Cell Line | EDJ-KQ55378 | Human | 10324 | Details Get a Quote |
| KLHL41 Knockout A-549 Cell Line | EDJ-KQ63860 | Human | 10324 | Details Get a Quote |
| KLHL41 Knockout HCT 116 Cell Line | EDJ-KQ72317 | Human | 10324 | Details Get a Quote |
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