CRYZL1: Crystallin Zeta Like 1
A quinone oxidoreductase with potential roles in cellular stress response and metabolic regulation.
Gene Information Card
| Symbol | CRYZL1 |
|---|---|
| Full Name | Crystallin Zeta Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 9946 ncbi.nlm.nih.gov/gene/9946 |
| Ensembl ID | ENSG00000160200 |
| UniProt ID | O95825 |
| OMIM ID | 604213 |
| HGNC ID | 2425 |
| Aliases | CRYZL1, QORL1, zeta-crystallin-like 1 |
Description
CRYZL1 encodes a member of the quinone oxidoreductase family, structurally similar to crystallin zeta. The protein functions as an NADPH-dependent quinone reductase, protecting cells from oxidative stress by reducing quinones and their derivatives. It is ubiquitously expressed with highest levels in the liver, kidney, and heart. CRYZL1 may also play a role in metabolic pathways and cellular detoxification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No curated disease entries in ClinVar or OMIM as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Heart | 8.7 | Medium |
| Brain | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 6.5 | Chronic myelogenous leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.520G>A (p.Val174Ile) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • NADPH:quinone reductase activity | • oxidoreductase activity |
| • cellular response to oxidative stress | • detoxification of quinone |
Pathways
• Quinone metabolism
• Cellular detoxification
Protein Summary
CRYZL1 is a 329-amino acid protein (UniProt O95825) belonging to the medium-chain dehydrogenase/reductase superfamily. It contains an NADPH-binding domain and a catalytic zinc-binding site. The protein forms a homodimer and catalyzes the two-electron reduction of quinones to hydroquinones, thereby preventing redox cycling and oxidative damage. It is localized in the cytoplasm and is expressed in multiple tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYZL1 Knockout HEK293 Cell Line | EDJ-KQ6837 | Human | 9946 | 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 |
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