CRYBB1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCRYBB1, CATCN3, CTRCT17, crystallin beta B1
External IDsOMIM: 600929 MGI: 104992 HomoloGene: 1423 GeneCards: CRYBB1
Orthologs
SpeciesHumanMouse
Entrez

1414

12960

Ensembl

ENSG00000100122

ENSMUSG00000029343

UniProt

P53674

Q9WVJ5

RefSeq (mRNA)

NM_001887

NM_023695
NM_001312893
NM_001312894
NM_001312895

RefSeq (protein)

NP_001878

NP_001299822
NP_001299823
NP_001299824
NP_076184

Location (UCSC)Chr 22: 26.6 – 26.62 MbChr 5: 112.4 – 112.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene.[5][6] Variants in CRYBB1 are associated with autosomal dominant congenital cataract. [7][8]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100122 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029343 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 1 2 "Entrez Gene: CRYBB1 crystallin, beta B1".
  7. 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 385100. PMID 12360425.
  8. Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA, et al. (June 2017). "Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract". Eur. J. Hum. Genet. 25 (6): 711–718. doi:10.1038/ejhg.2017.33. PMC 5477362. PMID 28272538.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.