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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CRYZ
crystallin zeta
Chromosome 1 · 1p31.1
NCBI Gene: 1429Ensembl: ENSG00000116791.15HGNC: HGNC:2419UniProt: Q08257
60PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homotetramerizationmRNA 3'-UTR bindingquinone reductase (NADPH) activityprotein bindingresponse to paracetamolovarian neoplasmadolescent idiopathic scoliosisamyotrophic lateral sclerosis
✦AI Summary

CRYZ (crystallin zeta) encodes a multifunctional protein with both structural and enzymatic roles. As an enzyme, CRYZ functions as an NADPH-dependent quinone oxidoreductase involved in xenobiotic detoxification 1. The protein demonstrates tissue-specific expression patterns, being highly expressed in the lens of certain mammals (camelids and hystricomorph rodents like guinea pigs) where it serves as a structural crystallin protein, comprising up to 10% of total soluble lens protein 12. In humans, CRYZ is located on chromosome 1-p31 and shows different evolutionary recruitment patterns compared to other species 32. The gene spans approximately 20 kb with nine exons and lacks typical TATA and CAAT promoter boxes 1. Recent studies suggest broader biological roles beyond the lens, with genetic variants near CRYZ being associated with circulating resistin levels, which may influence cardiovascular disease risk 4. Additionally, CRYZ has been implicated in neuropsychiatric disorders through epigenetic mechanisms, with methylation patterns associated with tic spectrum disorders and birth-weight discordance potentially affecting metabolic pathways 56. The protein's dual crystallin-enzyme function represents an example of evolutionary recruitment of metabolic enzymes for structural roles in specific tissues.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
response to paracetamolOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.24Weak
amyotrophic lateral sclerosisOpen Targets
0.23Weak
kidney cancerOpen Targets
0.15Weak
WheezingOpen Targets
0.03Suggestive
jaw diseaseOpen Targets
0.03Suggestive
skin agingOpen Targets
0.03Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
Benign Thyroid Gland NeoplasmOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
mood disorderOpen Targets
0.01Suggestive
movement disorderOpen Targets
0.01Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
liver dysplastic noduleOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NFE2L2Protein interaction99%KEAP1Protein interaction93%NQO1Protein interaction92%GCLMProtein interaction91%GCLCProtein interaction90%HMOX1Protein interaction88%
Tissue Expression6 tissues
Liver
100%
Heart
33%
Ovary
14%
Lung
11%
Brain
8%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
CRYZNFE2L2KEAP1NQO1GCLMGCLCHMOX1
PROTEIN STRUCTURE
Preparing viewer…
PDB1YB5 · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.55LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.18 [0.90–1.55]
RankingsWhere CRYZ stands among ~20K protein-coding genes
  • #7,646of 20,598
    Most Researched60
  • #15,427of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedCRYZ
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms.
PMID: 7835889
Genomics · 1994
1.00
2
Organization of the human zeta-crystallin/quinone reductase gene (CRYZ).
PMID: 8088825
Genomics · 1994
0.90
3
Genetics of crystallins: cataract and beyond.
PMID: 19007775
Exp Eye Res · 2009
0.80
4
Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.
PMID: 22843503
Hum Mol Genet · 2012
0.70
5
Evidence for independent recruitment of zeta-crystallin/quinone reductase (CRYZ) as a crystallin in camelids and hystricomorph rodents.
PMID: 7476124
Mol Biol Evol · 1995
0.60