CRYBB1 (crystallin beta B1)

2014-11-01  

Identity

HGNC
LOCATION
22q12.1
LOCUSID
ALIAS
CATCN3,CTRCT17
FUSION GENES

Other Information

Locus ID:

NCBI: 1414
MIM: 600929
HGNC: 2397
Ensembl: ENSG00000100122

Variants:

dbSNP: 1414
ClinVar: 1414
TCGA: ENSG00000100122
COSMIC: CRYBB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100122ENST00000647684P53674

Expression (GTEx)

0
1
2
3

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194638982009Lens aging: effects of crystallins.87
123604252002A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.48
174602812007Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.42
145738712003Crystal structure of truncated human betaB1-crystallin.38
161103002005CRYBB1 mutation associated with congenital cataract and microcornea.24
173273902007Mutation of interfaces in domain-swapped human betaB2-crystallin.22
191907322009Deamidation alters interactions of beta-crystallins in hetero-oligomers.21
175311252007A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.19
194619302009Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.16
214029922011Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.16

Citation

Dessen P

CRYBB1 (crystallin beta B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62104/crybb1-(crystallin-beta-b1)