Crystallin, Gamma-C

Alternative Names

  • CRYGC
  • Crystallin, Gamma-3
  • CRYG3

Associated Diseases

Cataract, Coppock-Like
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OMIM Number

123680

NCBI Gene ID

1420

Uniprot ID

P07315

Length

1,692 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Gamma-crystallin C

Molecular Mass

20879 Da

Amino Acid Count

174

Genomic Location

chr2:208,128,137-208,129,828

Gene Map Locus
2q33.3

Description

This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020989.4:c.403G>TSaudi ArabiaNC_000002.12:g.208128325C>ALikely PathogenicPathogenicCataract, Coppock-LikeNG_008038.1:g.6506G>T; NM_020989.4:c.403G>T; NP_066269.1:p.Glu135Ter750872744191147
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