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CRYAB

Synonyms
CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2
External resources
Summary
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. 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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
39
VUS
1,757
Likely benign
489
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on CRYAB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
35.9%
Abnormality of the nervous system
30.8%
Abnormality of head or neck
17.9%
Growth abnormality
15.4%
Abnormality of the genitourinary system
12.8%
Abnormality of the musculoskeletal system
12.8%
Abnormality of the ear
7.7%
Abnormality of the eye
7.7%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of limbs
5.1%
Abnormality of prenatal development or birth
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of the immune system
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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