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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CRYGC
crystallin gamma C
Chromosome 2 Β· 2q33.3
NCBI Gene: 1420Ensembl: ENSG00000163254.5HGNC: HGNC:2410UniProt: A0A0X8GLL6
57PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
visual perceptionprotein bindingnucleuscytoplasmpulverulent cataractearly-onset non-syndromic cataractNuclear pulverulent cataractearly-onset zonular cataract
✦AI Summary

CRYGC (crystallin gamma C) is a structural protein that serves as a dominant component of the vertebrate eye lens, essential for maintaining lens transparency and visual perception 1. As a member of the crystallin family, CRYGC functions through its structural protein-binding properties within the lens cytoplasm to preserve optical clarity 2. Mutations in CRYGC cause autosomal dominant congenital cataracts through disruption of protein structure. Identified mutations include missense variants (p.Leu90Arg, p.R48H, p.Trp131Arg), nonsense mutations (p.C109X, p.Tyr139X, p.Tyr144X, p.Arg169X), and frameshift mutations that produce various cataract phenotypes ranging from nuclear to pulverulent forms 3456. Structural analyses demonstrate that mutations cause loss of Greek key motifs and increased protein aggregation propensity, particularly with photodamage 46. CRYGC mutations account for approximately 4.1% of autosomal dominant congenital cataract cases in Chinese populations 5. Clinical manifestations vary from isolated cataracts to complex anterior segment dysgenesis including microphthalmia, microcornea, and nystagmus 78. Notably, digenic inheritance with mutations in multiple cataract genes produces more severe phenotypes than single-gene variants 7. CRYGC expression levels correlate with specific cataract morphologies, particularly anterior capsular changes 1.

Sources cited
1
CRYGC mutations cause ocular disease; digenic variants in CRYGC and GJA8 produce more severe phenotypes than single gene variants
PMID: 36916241
2
CRYGC c.143G>A (p.R48H) mutation associated with autosomal dominant pulverulent congenital cataract
PMID: 23954869
3
CRYGC is a candidate gene for inherited congenital cataract; crystallin genes relate to lens transparency
PMID: 19390652
4
CRYGC c.327C>A (p.C109X) nonsense mutation causes autosomal dominant nuclear cataract; mutation disrupts protein structure by removing Greek key motifs
PMID: 18618005
5
Novel and previously reported CRYGC mutations identified; CRYGC responsible for 4.1% of Chinese autosomal dominant congenital cataract families
PMID: 28298635
6
CRYGC c.391T>C (p.Trp131Arg) de novo mutation causes congenital cataract through structural changes promoting aggregation with photodamage
PMID: 38068917
7
CRYGC c.470 G>A variant identified in congenital anterior segment anomalies
PMID: 39747279
8
CRYGC expression correlates with cataract phenotype, particularly anterior capsular ruptures; part of lens structural gene expression network
PMID: 37203095
Disease Associationsβ“˜21
pulverulent cataractOpen Targets
0.78Strong
early-onset non-syndromic cataractOpen Targets
0.76Strong
Nuclear pulverulent cataractOpen Targets
0.61Moderate
early-onset zonular cataractOpen Targets
0.55Moderate
Developmental cataractOpen Targets
0.51Moderate
autosomal dominant cataractOpen Targets
0.51Moderate
Autosomal dominant optic atrophy and cataractOpen Targets
0.50Moderate
Cataract-microcornea syndromeOpen Targets
0.47Moderate
early-onset nuclear cataractOpen Targets
0.40Weak
cataract - microcornea syndromeOpen Targets
0.39Weak
cataract 9 multiple typesOpen Targets
0.39Weak
genetic disorderOpen Targets
0.34Weak
Partial congenital cataractOpen Targets
0.12Weak
Total congenital cataractOpen Targets
0.12Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.11Weak
isolated ectopia lentisOpen Targets
0.11Weak
cataract 35Open Targets
0.11Weak
cataract 13 with adult I phenotypeOpen Targets
0.11Weak
cataract 38Open Targets
0.11Weak
Cataract with Y-shaped suture opacitiesOpen Targets
0.11Weak
Cataract 2, multiple typesUniProt
Pathogenic Variants24
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)Pathogenic
Cataract 2, multiple types|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_020989.4(CRYGC):c.178C>T (p.Arg60Ter)Likely pathogenic
Cataract 2, multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 60
NM_020989.4(CRYGC):c.337C>T (p.Gln113Ter)Likely pathogenic
Cataract 2, multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 113
NM_020989.4(CRYGC):c.402C>A (p.Tyr134Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 134
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro)Pathogenic
Cataract 2, Coppock-like|Nuclear pulverulent cataract
β˜…β˜†β˜†β˜†2023β†’ Residue 5
NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)Likely pathogenic
Nuclear pulverulent cataract
β˜…β˜†β˜†β˜†2022β†’ Residue 138
NM_020989.4(CRYGC):c.394del (p.Val132fs)Pathogenic
Cataract 2, multiple types
β˜…β˜†β˜†β˜†2022β†’ Residue 132
NM_020989.4(CRYGC):c.418dup (p.Arg140fs)Likely pathogenic
Nuclear pulverulent cataract
β˜…β˜†β˜†β˜†2021β†’ Residue 140
NM_020989.4(CRYGC):c.424del (p.Arg142fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 142
NM_020989.4(CRYGC):c.424C>G (p.Arg142Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 142
NM_020989.4(CRYGC):c.423dup (p.Arg142fs)Pathogenic
Nuclear pulverulent cataract
β˜…β˜†β˜†β˜†2019β†’ Residue 142
NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 157
NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 144
NM_020989.4(CRYGC):c.423del (p.Arg142fs)Pathogenic
Cataract 2, multiple types
β˜…β˜†β˜†β˜†2018β†’ Residue 142
NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 143
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 135
NM_020989.4(CRYGC):c.417C>G (p.Tyr139Ter)Pathogenic
CRYGC-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 139
NM_020989.4(CRYGC):c.156del (p.Gly53fs)Likely pathogenic
CRYGC-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 53
NM_020989.4(CRYGC):c.432C>A (p.Tyr144Ter)Likely pathogenic
CRYGC-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 144
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)Pathogenic
Developmental cataract|Cataract 2, multiple types
β˜†β˜†β˜†β˜†2015β†’ Residue 166
View on ClinVar β†—
Related Genes
CRYBA2Shared pathway100%CRYBB1Shared pathway100%CRYBB3Shared pathway100%CRYGAShared pathway100%CRYGBShared pathway100%CRYGNShared pathway100%
Tissue Expression6 tissues
Ovary
0%
Brain
0%
Heart
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CRYGCCRYBA2CRYBB1CRYBB3CRYGACRYGBCRYGN
PROTEIN STRUCTURE
Preparing viewer…
PDB2NBR Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.40–0.94]
RankingsWhere CRYGC stands among ~20K protein-coding genes
  • #7,950of 20,598
    Most Researched57
  • #2,021of 5,498
    Most Pathogenic Variants24
  • #8,752of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedCRYGC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Microphthalmia and anterior segment dysgenesis due to a double gene variant in
PMID: 36916241
Eur J Ophthalmol Β· 2024
1.00
2
A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
PMID: 23954869
Gene Β· 2013
0.90
3
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
PMID: 19390652
Mol Vis Β· 2009
0.80
4
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
PMID: 18618005
Mol Vis Β· 2008
0.70
5
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.
PMID: 28298635
Sci Rep Β· 2017
0.60