CRYBB1

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CRYBB1
Protein CRYBB1 PDB 1oki.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CRYBB1, CATCN3, CTRCT17, crystallin beta B1
External IDs MGI: 104992 HomoloGene: 1423 GeneCards: CRYBB1
RNA expression pattern
PBB GE CRYBB1 206185 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001887

NM_023695
NM_001312893
NM_001312894
NM_001312895

RefSeq (protein)

NP_001878

Location (UCSC) Chr 22: 26.6 – 26.62 Mb Chr 5: 112.26 – 112.27 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene.[3][4][5]

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Hulsebos TJ, Gilbert DJ, Delattre O, Smink LJ, Dunham I, Westerveld A, Thomas G, Jenkins NA, Copeland NG (Mar 1996). "Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5". Genomics. 29 (3): 712–8. doi:10.1006/geno.1995.9947. PMID 8575764. 
  4. ^ Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A (Oct 2002). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am J Hum Genet. 71 (5): 1216–21. doi:10.1086/344212. PMC 385100Freely accessible. PMID 12360425. 
  5. ^ a b "Entrez Gene: CRYBB1 crystallin, beta B1". 

Further reading[edit]