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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CRYL1
crystallin lambda 1
Chromosome 13 · 13q12.11
NCBI Gene: 51084Ensembl: ENSG00000165475.15HGNC: HGNC:18246UniProt: A0A2R8Y4K2
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activityL-gulonate 3-dehydrogenase activityNAD+ bindingextracellular exosomehearing loss, autosomal recessiveautosomal recessive nonsyndromic hearing loss 1Bautosomal recessive nonsyndromic hearing loss 1Aalcohol drinking
✦AI Summary

CRYL1 (crystallin lambda 1) is a metabolic enzyme that catalyzes the conversion of L-gulonate to 3-dehydro-L-gulonate using NAD as a cosubstrate, with additional low dehydrogenase activity toward L-3-hydroxybutyrate and L-threonate 1. The gene is located on chromosome 13.11 and shows highest expression in liver and kidney tissues 1. CRYL1 functions as a tumor suppressor in hepatocellular carcinoma (HCC), where reduced expression is associated with advanced tumor staging, increased tumor size, and shorter disease-free survival 2. Restoration of CRYL1 expression inhibits cellular proliferation and induces apoptosis through prolongation of the G2-M phase 2. The gene is frequently downregulated in liver cancer tissues through mechanisms including homozygous deletions, histone deacetylation, and promoter hypermethylation 2. CRYL1 variants have been associated with sickle cell disease nephropathy and may serve as a prognostic biomarker in clear cell renal cell carcinoma, correlating with immune infiltration and cuproptosis pathways 34. Additionally, CRYL1 deletions can affect GJB2 expression in cis, contributing to hearing loss phenotypes 56.

Sources cited
1
CRYL1 catalyzes L-gulonate conversion, is highly expressed in liver and kidney, and is located on chromosome 13q12.11
PMID: 12527201
2
CRYL1 functions as tumor suppressor in HCC, with reduced expression correlating with poor prognosis and growth inhibition upon restoration
PMID: 19927314
3
CRYL1 variants are associated with sickle cell disease nephropathy
PMID: 36399516
4
CRYL1 serves as prognostic biomarker in clear cell renal cell carcinoma and correlates with cuproptosis
PMID: 38497139
5
CRYL1 deletions affect GJB2 expression and contribute to hearing loss
PMID: 40565562
6
CRYL1 variants may modify GJB2-related hearing impairment phenotypes
PMID: 37683890
Disease Associationsⓘ20
hearing loss, autosomal recessiveOpen Targets
0.48Moderate
autosomal recessive nonsyndromic hearing loss 1BOpen Targets
0.42Moderate
autosomal recessive nonsyndromic hearing loss 1AOpen Targets
0.42Moderate
alcohol drinkingOpen Targets
0.41Moderate
aneurysmOpen Targets
0.29Weak
placental retentionOpen Targets
0.29Weak
COVID-19Open Targets
0.28Weak
disorder of earOpen Targets
0.28Weak
nutritional deficiency diseaseOpen Targets
0.23Weak
colorectal carcinomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
polycystic ovary syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
Guillain-Barre syndromeOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
hypotrichosis 1Open Targets
0.04Suggestive
Parkinson diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKR1A1Protein interaction93%HSDL2Protein interaction91%ACAA1Protein interaction88%ACAT1Protein interaction88%ACAT2Protein interaction88%HADHBProtein interaction88%
Tissue Expression6 tissues
Liver
100%
Brain
18%
Heart
15%
Bone Marrow
10%
Ovary
8%
Lung
7%
Gene Interaction Network
Click a node to explore
CRYL1AKR1A1HSDL2ACAA1ACAT1ACAT2HADHB
PROTEIN STRUCTURE
Preparing viewer…
PDB3F3S · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.70–1.30]
RankingsWhere CRYL1 stands among ~20K protein-coding genes
  • #13,164of 20,598
    Most Researched24
  • #13,652of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedCRYL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.
PMID: 41094176
Eur J Hum Genet · 2026
1.00
2
Human CRYL1, a novel enzyme-crystallin overexpressed in liver and kidney and downregulated in 58% of liver cancer tissues from 60 Chinese patients, and four new homologs from other mammalians.
PMID: 12527201
Gene · 2003
0.90
3
Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.
PMID: 36399516
Blood Adv · 2023
0.80
4
A Novel Recurrent 200 kb
PMID: 40565562
Genes (Basel) · 2025
0.70
5
CRYL1 is a Potential Prognostic Biomarker of Clear Cell Renal Cell Carcinoma Correlated with Immune Infiltration and Cuproptosis.
PMID: 38497139
Technol Cancer Res Treat · 2024
0.60