Details for: CRYBB1
Associated with
Other Information
Genular Protein ID: 2839523136
Symbol: CRBB1_HUMAN
Name: Beta-crystallin B1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8626774
Title: The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension.
PubMed ID: 8626774
PubMed ID: 15461802
Title: A genome annotation-driven approach to cloning the human ORFeome.
PubMed ID: 15461802
PubMed ID: 10591208
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8575764
Title: Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5.
PubMed ID: 8575764
PubMed ID: 12360425
Title: A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
PubMed ID: 12360425
DOI: 10.1086/344212
PubMed ID: 15667225
Title: Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin.
PubMed ID: 15667225
DOI: 10.1021/bi048419f
PubMed ID: 16110300
Title: CRYBB1 mutation associated with congenital cataract and microcornea.
PubMed ID: 16110300
PubMed ID: 14573871
Title: Crystal structure of truncated human betaB1-crystallin.
PubMed ID: 14573871
DOI: 10.1110/ps.03265903
PubMed ID: 17460281
Title: Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
PubMed ID: 17460281
DOI: 10.1167/iovs.06-1019
PubMed ID: 21972112
Title: A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer.
PubMed ID: 21972112
DOI: 10.1002/humu.21436
PubMed ID: 23508780
Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
PubMed ID: 23508780
PubMed ID: 29386872
Title: Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
PubMed ID: 29386872
PubMed ID: 29914532
Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
PubMed ID: 29914532
PubMed ID: 33243271
Title: The genetic landscape of crystallins in congenital cataract.
PubMed ID: 33243271
Sequence Information:
- Length: 252
- Mass: 28023
- Checksum: 93D81A9C95A86F7F
- Sequence:
MSQAAKASAS ATVAVNPGPD TKGKGAPPAG TSPSPGTTLA PTTVPITSAK AAELPPGNYR LVVFELENFQ GRRAEFSGEC SNLADRGFDR VRSIIVSAGP WVAFEQSNFR GEMFILEKGE YPRWNTWSSS YRSDRLMSFR PIKMDAQEHK ISLFEGANFK GNTIEIQGDD APSLWVYGFS DRVGSVKVSS GTWVGYQYPG YRGYQYLLEP GDFRHWNEWG AFQPQMQSLR RLRDKQWHLE GSFPVLATEP PK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.