QuickView for CRYBA1 (gene)

Gene Symbol:

CRYBA1 Homo sapiens

Full name:

crystallin beta A1

Synonyms:

CRYB1, CTRCT10, beta-crystallin A3, beta crystallin A3 chain transcript CN, beta crystallin A3 chain transcript LAM, beta crystallin A3 chain transcript PS, beta crystallin A3 chain transcript TC, crystallin beta A3/A1, crystallin, beta A3, eye lens structural protein, truncated beta crystallin A3/A1 chain, truncated beta-crystallin A3

Genomic Location:

Chr 17: 24598001-24605638

Description:

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 li...

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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'.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TATAAA_TATA_01 ,  TGCTGAY_UNKNOWN ,  TTGTTT_FOXO4_01 ,  TATA_01

Cytogenetic Map:

17q11.2

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