| Tbio | Beta-crystallin A4 |
Crystallins are the dominant structural components of the vertebrate eye lens.
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, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
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, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count |
|---|---|
| CATARACT, MARNER TYPE | 6 |
| Cataract microcornea syndrome | 8 |
| Cataract, Lamellar 2 | 1 |
| Disease | Target Count |
|---|---|
| Cataract 23 | 1 |
| Cataract-microcornea syndrome | 8 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG |
| PMID | Text |
|---|---|
| 22792142 | rs2009066 located in the crystallin beta A4 (CRYBA4) gene was identified to be the most significantly associated with high myopia. |
| 20577656 | Novel missense mutation in CRYBA4 expands mutation spectrum of CRYBA4 and provides useful information to study of molecular pathogenesis of cataract and microcornea. |
| 20057906 | Observational study of gene-disease association. (HuGE Navigator) |
| 16960806 | first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia |
| PMID | Year | Title |
|---|---|---|
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 22792142 | 2012 | Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus. |
| 20889312 | 2010 | A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. |
| 20577656 | 2010 | A missense mutation in CRYBA4 associated with congenital cataract and microcornea. |
| 20057906 | 2009 | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. |
| 16960806 | 2006 | CRYBA4, a novel human cataract gene, is also involved in microphthalmia. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 15461802 | 2004 | A genome annotation-driven approach to cloning the human ORFeome. |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
| 12360425 | 2002 | A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. |
| More... |
