CRYZ: Crystallin Zeta (Quinone Reductase)
A comprehensive overview of the CRYZ gene, its function, expression, and associated diseases.
Gene Information Card
| Symbol | CRYZ |
|---|---|
| Full Name | Crystallin Zeta (Quinone Reductase) |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 1429 ncbi.nlm.nih.gov/gene/1429 |
| Ensembl ID | ENSG00000116793 |
| UniProt ID | Q08257 |
| OMIM ID | 123690 |
| HGNC ID | 2422 |
| Aliases | CRYZ1, quinone reductase, zeta-crystallin |
Description
CRYZ encodes crystallin zeta, a NADPH-dependent quinone reductase that catalyzes the reduction of quinones to hydroquinones. It is involved in cellular detoxification and protection against oxidative stress. The protein is also a structural component of the eye lens in some species, though its primary function in humans is enzymatic.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract | Mutations in CRYZ may disrupt lens protein structure or quinone detoxification, leading to lens opacification. | OMIM #123690 |
| Cancer (general) | Altered CRYZ expression affects quinone metabolism and oxidative stress response, potentially influencing tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.1 | Medium |
| Heart | 6.3 | Low |
| Brain | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Liver cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cell line |
| MCF7 | 5.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Cys) | Missense | <0.01% | Reduced enzymatic activity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg168Cys) reduce quinone reductase activity, impairing detoxification.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • NADPH:quinone reductase activity (GO:0003954) | • glutathione metabolic process (GO:0006749) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• Quinone detoxification
• Oxidative stress response
Protein Summary
Crystallin zeta (CRYZ) is a 35 kDa NADPH-dependent quinone reductase that protects cells from quinone-induced oxidative damage. It is expressed in various tissues, with highest levels in liver and kidney. The protein is primarily cytosolic and participates in detoxification pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYZ Knockout HEK293 Cell Line | EDJ-KQ4361 | Human | 1429 | Details Get a Quote |
| CRYZL1 Knockout HEK293 Cell Line | EDJ-KQ6837 | Human | 9946 | Details Get a Quote |
| CRYZ Knockout A-549 Cell Line | EDJ-KQ26865 | Human | 1429 | Details Get a Quote |
| CRYZ Knockout HCT 116 Cell Line | EDJ-KQ26866 | Human | 1429 | Details Get a Quote |
| CRYZ Knockout HeLa Cell Line | EDJ-KQ26867 | Human | 1429 | Details Get a Quote |
| CRYZL1 Knockout A-549 Cell Line | EDJ-KQ31385 | Human | 9946 | Details Get a Quote |
| CRYZL1 Knockout HCT 116 Cell Line | EDJ-KQ31386 | Human | 9946 | Details Get a Quote |
| CRYZL1 Knockout HeLa Cell Line | EDJ-KQ31387 | Human | 9946 | Details Get a Quote |
