CRYAA (crystallin alpha A)

2010-08-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
CRYA1,CTRCT9,HSPB4

Other Information

Locus ID:

NCBI: 1409
MIM: 123580
HGNC: 2388
Ensembl: ENSG00000160202

Variants:

dbSNP: 1409
ClinVar: 1409
TCGA: ENSG00000160202
COSMIC: CRYAA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160202ENST00000291554P02489
ENSG00000160202ENST00000398133E7EWH7

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194638982009Lens aging: effects of crystallins.87
177241702007Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.64
210928582010The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin αA.43
179739722007Presbyopia and heat: changes associated with aging of the human lens suggest a functional role for the small heat shock protein, alpha-crystallin, in maintaining lens flexibility.38
196516042009The eye lens chaperone alpha-crystallin forms defined globular assemblies.38
213646392010The anti-apoptotic function of human αA-crystallin is directly related to its chaperone activity.37
164531252006Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.32
157016262005Subunit exchange of polydisperse proteins: mass spectrometry reveals consequences of alphaA-crystallin truncation.31
193906522009Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.31
152842382004Deamidation affects structural and functional properties of human alphaA-crystallin and its oligomerization with alphaB-crystallin.30

Citation

Dessen P

CRYAA (crystallin alpha A)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51650/cryaa-(crystallin-alpha-a)