CLUH
Clustered Mitochondria Homolog
Gene Information Card
| Symbol | CLUH |
|---|---|
| Full Name | Clustered Mitochondria Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 23277 ncbi.nlm.nih.gov/gene/23277 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | O75153 |
| OMIM ID | 616178 |
| HGNC ID | 24426 |
| Aliases | CLU1, dJ402H5.2, KIAA0664 |
Description
CLUH encodes a cytosolic protein that binds to specific mRNAs encoding mitochondrial proteins, regulating their translation and localization. It is essential for proper mitochondrial distribution and clustering, particularly in cells with high energy demands. The protein contains tetratricopeptide repeat (TPR) domains that mediate protein-protein interactions and RNA binding.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy | Impaired mitochondrial distribution due to CLUH deficiency leads to energy failure in neural tissues | ClinVar, OMIM |
| Neurodegenerative disorders | Dysregulation of mitochondrial dynamics and oxidative stress | NCBI Gene, PubMed |
| Cancer (various) | Altered mitochondrial metabolism and apoptosis resistance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 9.5 | Low |
| Skeletal muscle | 11.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 13.1 | High expression |
| SH-SY5Y | 11.7 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Loss of function |
| c.245C>T | Nonsense | <0.01% | Premature truncation |
| c.1024_1025del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations lead to loss of CLUH function, impairing mitochondrial clustering and mRNA binding.
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)
| • protein binding (GO:0005515) | • mRNA binding (GO:0003729) |
| • cytoplasm (GO:0005737) | • mitochondrion organization (GO:0007005) |
| • regulation of mitochondrial translation (GO:0040029) |
Pathways
• Mitochondrial dynamics and distribution
• mRNA localization and translation regulation
Protein Summary
CLUH is a 130 kDa cytosolic protein that contains multiple tetratricopeptide repeat (TPR) domains. It binds to the 3' UTR of specific nuclear-encoded mitochondrial mRNAs, facilitating their translation and proper localization to mitochondria. This function is critical for maintaining mitochondrial network morphology and energy metabolism. Loss of CLUH leads to mitochondrial clustering and dysfunction, particularly in neurons and muscle cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLUH Knockout HEK293 Cell Line | EDJ-KQ7941 | Human | 23277 | Details Get a Quote |
| CLUH Knockout A-549 Cell Line | EDJ-KQ33603 | Human | 23277 | Details Get a Quote |
| CLUH Knockout HCT 116 Cell Line | EDJ-KQ33604 | Human | 23277 | Details Get a Quote |
| CLUH Knockout HeLa Cell Line | EDJ-KQ33605 | Human | 23277 | Details Get a Quote |
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