CRYBA1 (crystallin beta A1)

2014-11-01  

Identity

HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
CRYB1,CTRCT10
FUSION GENES

Other Information

Locus ID:

NCBI: 1411
MIM: 123610
HGNC: 2394
Ensembl: ENSG00000108255

Variants:

dbSNP: 1411
ClinVar: 1411
TCGA: ENSG00000108255
COSMIC: CRYBA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108255ENST00000225387P05813
ENSG00000108255ENST00000484605J3QRT1

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185677862008Deamidation destabilizes and triggers aggregation of a lens protein, betaA3-crystallin.41
176161722007Deamidation alters the structure and decreases the stability of human lens betaA3-crystallin.30
150167662004Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.28
176530602007Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations.28
145981642004A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.24
151115992004CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.24
191907322009Deamidation alters interactions of beta-crystallins in hetero-oligomers.21
201428462010A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.17
211399832010A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.15
188231282008Association properties of betaB1- and betaA3-crystallins: ability to form heterotetramers.14

Citation

Dessen P

CRYBA1 (crystallin beta A1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62101/cryba1-(crystallin-beta-a1)