Gene: CRYBA1

Alternate names for this Gene: CRYB1|CTRCT10

Gene Summary: 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 acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2

Description of this Gene: crystallin beta A1

Type of Gene: protein-coding

rs1264025914 in CRYBA1 gene and Cataract, Congenital Zonular, with Sutural Opacities PMID 20142846 2010 A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

PMID 22919269 2012 Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.

PMID 21850182 2011 A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.

PMID 9788845 1998 Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

PMID 14598164 2004 A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

rs17727765 in CRYBA1 gene and Major Depressive Disorder PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

rs1264025914 in CRYBA1 gene and Muscle hypotonia PMID 24926697 2014 Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.

PMID 15016766 2004 Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

PMID 21686330 2011 A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.

PMID 26851658 2016 Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.

PMID 28149769 2017 A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.

PMID 25461968 2015 βA3/A1-crystallin: more than a lens protein.