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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CRYBA1
crystallin beta A1
Chromosome 17 · 17q11.2
NCBI Gene: 1411Ensembl: ENSG00000108255.8HGNC: HGNC:2394UniProt: P05813
56PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglens development in camera-type eyevisual perceptionstructural constituent of eye lensCataract with Y-shaped suture opacitiesPosterior polar cataractearly-onset non-syndromic cataractgenetic disorder
✦AI Summary

CRYBA1 encodes βA3/A1-crystallin, which serves dual functions as both a structural lens protein and a regulator of cellular homeostasis. As a major lens component, βA3/A1-crystallin contributes to lens transparency and refractivity essential for vision 1. Beyond the lens, this protein is expressed in retinal astrocytes and retinal pigment epithelial (RPE) cells, where it plays a critical role in lysosomal acidification through interaction with V-ATPase, the proton pump responsible for endolysosomal acidification 1. Loss of functional βA3/A1-crystallin impairs autophagy and phagocytosis in RPE cells, leading to accumulation of undigested cargo in phagolysosomes and pathological changes resembling age-related macular degeneration 1. In astrocytes, βA3/A1-crystallin deficiency causes endolysosomal signaling defects that impair mTOR and Notch/STAT3 pathways, contributing to persistent fetal vasculature disease through abnormal vascular remodeling 2. Mutations in CRYBA1 cause autosomal dominant congenital cataracts, with the recurrent ΔG91 deletion being particularly common in Chinese families, representing a mutational hotspot 34. Interestingly, CRYBA1 overexpression can rescue autophagy defects and restore RPE integrity in AMD-like pathology, suggesting therapeutic potential 5.

Sources cited
1
βA3/A1-crystallin functions in lens structure and lysosomal acidification through V-ATPase interaction
PMID: 25461968
2
Loss of βA3/A1-crystallin causes persistent fetal vasculature disease through impaired endolysosomal signaling
PMID: 26022148
3
ΔG91 deletion is a recurrent mutation hotspot in Chinese families with nuclear cataracts
PMID: 29364738
4
ΔG91 mutation causes abnormal protein expression and distribution
PMID: 31488069
5
CRYBA1 overexpression rescues autophagy defects and restores RPE integrity
PMID: 40205682
Disease Associationsⓘ21
Cataract with Y-shaped suture opacitiesOpen Targets
0.75Strong
Posterior polar cataractOpen Targets
0.71Strong
early-onset non-syndromic cataractOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.41Moderate
early-onset nuclear cataractOpen Targets
0.39Weak
cataractOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.39Weak
early-onset posterior polar cataractOpen Targets
0.37Weak
early-onset sutural cataractOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.34Weak
agingOpen Targets
0.31Weak
lens diseaseOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.09Suggestive
pulverulent cataractOpen Targets
0.09Suggestive
isolated ectopia lentisOpen Targets
0.09Suggestive
Cataract 10, multiple typesUniProt
Pathogenic Variants16
NM_005208.5(CRYBA1):c.215+1G>TPathogenic
Cataract 10 multiple types
★★☆☆2026
NM_005208.5(CRYBA1):c.215+1G>APathogenic
Cataract 10 multiple types|Inborn genetic diseases|not provided|CRYBA1-related disorder
★★☆☆2026
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)Pathogenic
not provided|Cataract 10 multiple types
★★☆☆2025→ Residue 91
NM_005208.5(CRYBA1):c.96+2T>ALikely pathogenic
Cataract 10 multiple types
★☆☆☆2025
NM_005208.5(CRYBA1):c.340C>T (p.Arg114Cys)Pathogenic
Cataract 10 multiple types
★☆☆☆2025→ Residue 114
NM_005208.5(CRYBA1):c.500+1G>CLikely pathogenic
not provided|Cataract 10 multiple types
★☆☆☆2024
NM_005208.5(CRYBA1):c.501-2_522delLikely pathogenic
Cataract 10 multiple types
★☆☆☆2021
NM_005208.5(CRYBA1):c.258del (p.Phe86fs)Likely pathogenic
Cataract 10 multiple types
★☆☆☆2021→ Residue 86
NM_005208.5(CRYBA1):c.215+1G>CPathogenic
Cataract 10 multiple types|CRYBA1-related disorder
★☆☆☆2020
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del)Likely pathogenic
Cataract 10 multiple types
★☆☆☆2017→ Residue 177
NM_005208.5(CRYBA1):c.500+1G>ALikely pathogenic
Cataract 10 multiple types
★☆☆☆2016
NM_005208.5(CRYBA1):c.279C>A (p.Tyr93Ter)Pathogenic
Cataract 10 multiple types
★☆☆☆→ Residue 93
NM_005208.5(CRYBA1):c.588_591del (p.Arg196fs)Likely pathogenic
not provided
★☆☆☆→ Residue 196
NM_005208.5(CRYBA1):c.530del (p.Arg177fs)Likely pathogenic
CRYBA1-related disorder
☆☆☆☆2024→ Residue 177
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs)Pathogenic
Cataract 10 multiple types
☆☆☆☆2016→ Residue 203
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp)Likely pathogenic
Cataract 10 multiple types
☆☆☆☆→ Residue 209
View on ClinVar ↗
Related Genes
GJA8Protein interaction79%BFSP1Protein interaction79%CRYAAProtein interaction79%CRYABProtein interaction79%LIM2Protein interaction78%GJA3Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
84%
Lung
63%
Liver
37%
Ovary
11%
Heart
0%
Gene Interaction Network
Click a node to explore
CRYBA1GJA8BFSP1CRYAACRYABLIM2GJA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P05813
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.48–0.99]
RankingsWhere CRYBA1 stands among ~20K protein-coding genes
  • #8,054of 20,598
    Most Researched56
  • #2,412of 5,498
    Most Pathogenic Variants16
  • #9,458of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedCRYBA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Increased LCN2 (lipocalin 2) in the RPE decreases autophagy and activates inflammasome-ferroptosis processes in a mouse model of dry AMD.
PMID: 35473441
Autophagy · 2023
1.00
2
Lysosomes in retinal health and disease.
PMID: 37848361
Trends Neurosci · 2023
0.90
3
βA3/A1-crystallin: more than a lens protein.
PMID: 25461968
Prog Retin Eye Res · 2015
0.80
4
The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.
PMID: 31488069
BMC Med Genet · 2019
0.70
5
HER2 Overexpression and Cytogenetical Patterns in Canine Mammary Carcinomas.
PMID: 36356060
Vet Sci · 2022
0.60