What is the official name of the CRYAB gene?
The official name of this gene is “crystallin, alpha B.”
CRYAB is the gene's official symbol. The CRYAB gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CRYAB gene?
- From NCBI Gene:
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
- From UniProt:
May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.
How are changes in the CRYAB gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the CRYAB gene:
- UniProt provides the following information about the CRYAB gene's known or predicted involvement in human disease.
Myopathy, myofibrillar, 2 (MFM2): A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. The disease is caused by mutations affecting the gene represented in this entry.
Cataract 16, multiple types (CTRCT16): An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. The disease is caused by mutations affecting the gene represented in this entry.
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB): A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1II (CMD1II): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CRYAB gene.
- Dilated cardiomyopathy 1II
- Posterior polar cataract type 2
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the CRYAB gene and its association with health conditions.
Where is the CRYAB gene located?
Cytogenetic Location: 11q22.3-q23.1
Molecular Location on chromosome 11: base pairs 111,908,619 to 111,913,212
The CRYAB gene is located on the long (q) arm of chromosome 11 between positions 22.3 and 23.1.
More precisely, the CRYAB gene is located from base pair 111,908,619 to base pair 111,913,212 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CRYAB?
You and your healthcare professional may find the following resources about CRYAB helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the CRYAB gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CRYAB?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.