CUTC Gene: Copper Transporter CUTC
Essential copper homeostasis gene with roles in development and disease
Gene Information Card
| Symbol | CUTC |
|---|---|
| Full Name | Copper Transporter CUTC |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 51076 ncbi.nlm.nih.gov/gene/51076 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9NTM9 |
| OMIM ID | 618470 |
| HGNC ID | 24279 |
| Aliases | CGI-32, HSPC004, MGC13125 |
Description
The CUTC gene encodes the copper transporter CUTC, a small cytoplasmic protein involved in copper homeostasis. It is evolutionarily conserved and expressed in multiple tissues. CUTC functions as a copper chaperone, delivering copper to cuproenzymes and regulating intracellular copper levels. Mutations in CUTC have been associated with a rare autosomal recessive disorder characterized by developmental delay, seizures, and copper metabolism abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental delay with seizures and copper metabolism abnormalities | Loss-of-function mutations in CUTC impair copper delivery to cuproenzymes, leading to copper deficiency in critical tissues and neurological dysfunction. | ClinVar, OMIM #618470 |
| Copper deficiency disorders | Disrupted copper transport due to CUTC mutations may contribute to systemic copper deficiency, affecting hematopoiesis and connective tissue integrity. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.1 | Medium |
| Heart | 9.7 | Low |
| Testis | 18.4 | Medium |
| Lung | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | missense | <0.01% | Impaired copper binding |
| c.319G>A (p.Gly107Arg) | missense | <0.01% | Reduced protein stability |
| c.421_423del (p.Lys141del) | deletion | <0.01% | In-frame deletion, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported CUTC mutations are loss-of-function, leading to reduced copper chaperone activity and copper deficiency in target tissues.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CUTC.
Dominant Negative (DN)
No dominant-negative mutations have been described for CUTC.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding | • copper chaperone activity |
| • intracellular copper ion homeostasis | • cytoplasm |
| • response to copper ion |
Pathways
• Copper homeostasis
• Metal ion transport
Protein Summary
CUTC is a small cytoplasmic protein (approximately 22 kDa) that binds copper ions and delivers them to copper-dependent enzymes. It contains a conserved copper-binding motif and is essential for maintaining cellular copper balance. The protein is ubiquitously expressed with higher levels in brain, kidney, and testis. Structural studies indicate a thioredoxin-like fold. CUTC deficiency leads to copper depletion in cells, affecting mitochondrial function and antioxidant defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CUTC Knockout HEK293 Cell Line | EDJ-KQ10906 | Human | 51076 | Details Get a Quote |
| CUTC Knockout HeLa Cell Line | EDJ-KQ37334 | Human | 51076 | Details Get a Quote |
| CUTC Knockout A-549 Cell Line | EDJ-KQ38630 | Human | 51076 | Details Get a Quote |
| CUTC Knockout HCT 116 Cell Line | EDJ-KQ38631 | Human | 51076 | Details Get a Quote |
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