CRYAB phospho S59

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. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity).

Myopathy, myofibrillar, 2

MFM2

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by 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.

None

The disease is caused by variants 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.

None

The disease is caused by variants affecting the gene represented in this entry.

CRYAB mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness.

Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related

MFMFIH-CRYAB

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has 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.

None

The disease is caused by variants 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the small heat shock protein (HSP20) family.

Lens as well as other tissues (PubMed:2387586, PubMed:838078). Expressed in myocardial tissue (PubMed:28493373).

• Cytoplasm
• Nucleus
• Secreted
• Lysosome
• Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles (PubMed:19464326). Localizes at the Z-bands and the intercalated disk in cardiomyocytes (PubMed:28493373). Can be secreted; the secretion is dependent on protein unfolding and facilitated by the cargo receptor TMED10; it results in protein translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) followed by vesicle entry and secretion (PubMed:32272059).

CRYA2, HSPB5, CRYAB, Alpha-crystallin B chain, Alpha(B)-crystallin, Heat shock protein beta-5, Heat shock protein family B member 5, Renal carcinoma antigen NY-REN-27, Rosenthal fiber component, HspB5

• swissprot:P02511

Proteins

Neuroscience

20159Da