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 releas... See more...

Aliases for CRYAB Gene

Aliases for CRYAB Gene

  • Crystallin Alpha B 2 3 5
  • HSPB5 2 3 4
  • Renal Carcinoma Antigen NY-REN-27 3 4
  • Heat Shock Protein Beta-5 3 4
  • Rosenthal Fiber Component 3 4
  • Alpha-Crystallin B Chain 3 4
  • CRYA2 3 4
  • Epididymis Secretory Protein Li 101 3
  • Heat-Shock 20 KD Like-Protein 3
  • Crystallin, Alpha B 2
  • Alpha(B)-Crystallin 4
  • HEL-S-101 3
  • CTRCT16 3
  • CMD1II 3
  • CTPP2 3
  • CRYAB 5
  • HspB5 4
  • MFM2 3

External Ids for CRYAB Gene

Previous HGNC Symbols for CRYAB Gene

  • CRYA2

Previous GeneCards Identifiers for CRYAB Gene

  • GC11M114132
  • GC11M113291
  • GC11M111813
  • GC11M111316
  • GC11M111284
  • GC11M107703

Summaries for CRYAB Gene

Entrez Gene Summary for CRYAB 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. 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 2019]

GeneCards Summary for CRYAB Gene

CRYAB (Crystallin Alpha B) is a Protein Coding gene. Diseases associated with CRYAB include Myopathy, Myofibrillar, 2 and Cardiomyopathy, Dilated, 1Ii. Among its related pathways are Longevity regulating pathway and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CRYAA.

UniProtKB/Swiss-Prot Summary for CRYAB Gene

  • 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.

Gene Wiki entry for CRYAB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRYAB Gene

Genomics for CRYAB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CRYAB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYAB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRYAB

Top Transcription factor binding sites by QIAGEN in the CRYAB gene promoter:
  • c-Myc
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • Sp1

Genomic Locations for CRYAB Gene

Latest Assembly
chr11:111,908,564-111,923,740
(GRCh38/hg38)
Size:
15,177 bases
Orientation:
Minus strand

Previous Assembly
chr11:111,779,288-111,794,464
(GRCh37/hg19 by Entrez Gene)
Size:
15,177 bases
Orientation:
Minus strand

chr11:111,779,289-111,794,446
(GRCh37/hg19 by Ensembl)
Size:
15,158 bases
Orientation:
Minus strand

Genomic View for CRYAB Gene

Genes around CRYAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYAB Gene

Proteins for CRYAB Gene

  • Protein details for CRYAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02511-CRYAB_HUMAN
    Recommended name:
    Alpha-crystallin B chain
    Protein Accession:
    P02511
    Secondary Accessions:
    • B0YIX0
    • O43416
    • Q9UC37
    • Q9UC38
    • Q9UC39
    • Q9UC40
    • Q9UC41

    Protein attributes for CRYAB Gene

    Size:
    175 amino acids
    Molecular mass:
    20159 Da
    Quaternary structure:
    • Heteropolymer composed of three CRYAA and one CRYAB subunits (PubMed:20836128). Aggregates with homologous proteins, including the small heat shock protein HSPB1, to form large heteromeric complexes (PubMed:10751411). Inter-subunit bridging via zinc ions enhances stability, which is crucial as there is no protein turn over in the lens (PubMed:22890888). Interacts with HSPBAP1 and TTN/titin (PubMed:14676215). Interacts with TMEM109 (PubMed:23542032). Interacts with DES; binds rapidly during early stages of DES filament assembly and a reduced binding seen in the later stages (PubMed:28470624). Interacts with TMED10; the interaction mediates the translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and thereby secretion (PubMed:32272059).

    Three dimensional structures from OCA and Proteopedia for CRYAB Gene

neXtProt entry for CRYAB Gene

Post-translational modifications for CRYAB Gene

  • Glycosylation at Thr170
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CRYAB_HUMAN (33)

Antibodies for research

No data available for DME Specific Peptides for CRYAB Gene

Domains & Families for CRYAB Gene

Gene Families for CRYAB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CRYAB Gene

InterPro:
Blocks:
  • Heat shock protein Hsp20
  • Alpha crystallin signature

Suggested Antigen Peptide Sequences for CRYAB Gene

GenScript: Design optimal peptide antigens:
  • Alpha B crystallin (C3VMY8_HUMAN)
  • Rosenthal fiber component (CRYAB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02511

UniProtKB/Swiss-Prot:

CRYAB_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
Family:
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with CRYAB: view

Function for CRYAB Gene

Molecular function for CRYAB Gene

UniProtKB/Swiss-Prot Function:
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.
GENATLAS Biochemistry:
crystallin,alpha polypeptide 2 (alphaB),selectively expressed in slow-twitch oxidative muscle fibers,with chaperone-like activity and maintenance of cytoskeletal network in muscle,involved in desmin related myopathy and in cataract,alpha crystallin/small hsp family

Phenotypes From GWAS Catalog for CRYAB Gene

Gene Ontology (GO) - Molecular Function for CRYAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IPI 23106396
GO:0005198 structural molecule activity IDA 16303126
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 11700327
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with CRYAB: view
genes like me logo Genes that share phenotypes with CRYAB: view

Human Phenotype Ontology for CRYAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRYAB Gene

MGI Knock Outs for CRYAB:
  • Cryab Cryab<tm1a(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYAB

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CRYAB Gene

Localization for CRYAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRYAB Gene

Cytoplasm. Nucleus. Secreted. Note=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). {ECO:0000269 PubMed:19464326, ECO:0000269 PubMed:28493373, ECO:0000269 PubMed:32272059}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYAB gene
Compartment Confidence
nucleus 5
plasma membrane 4
extracellular 4
mitochondrion 4
cytosol 4
cytoskeleton 3
golgi apparatus 3
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRYAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA,IDA 19464326
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 14752512
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with CRYAB: view

Pathways & Interactions for CRYAB Gene

genes like me logo Genes that share pathways with CRYAB: view

Pathways by source for CRYAB Gene

SIGNOR curated interactions for CRYAB Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CRYAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002088 lens development in camera-type eye IEA --
GO:0006457 protein folding NAS,IEA --
GO:0006936 muscle contraction TAS 9731540
GO:0007021 tubulin complex assembly IEA --
genes like me logo Genes that share ontologies with CRYAB: view

Drugs & Compounds for CRYAB Gene

(15) Drugs for CRYAB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for CRYAB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CRYAB: view

Transcripts for CRYAB Gene

mRNA/cDNA for CRYAB Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYAB

Alternative Splicing Database (ASD) splice patterns (SP) for CRYAB Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for CRYAB Gene

GeneLoc Exon Structure for
CRYAB

Expression for CRYAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRYAB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYAB Gene

This gene is overexpressed in Heart - Left Ventricle (x10.7), Muscle - Skeletal (x5.5), and Heart - Atrial Appendage (x5.2).

Protein differential expression in normal tissues from HIPED for CRYAB Gene

This gene is overexpressed in Vitreous humor (32.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRYAB Gene



Protein tissue co-expression partners for CRYAB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRYAB

SOURCE GeneReport for Unigene cluster for CRYAB Gene:

Hs.53454

mRNA Expression by UniProt/SwissProt for CRYAB Gene:

P02511-CRYAB_HUMAN
Tissue specificity: Lens as well as other tissues (PubMed:838078, PubMed:2387586). Expressed in myocardial tissue (PubMed:28493373).

Evidence on tissue expression from TISSUES for CRYAB Gene

  • Heart(5)
  • Muscle(4.9)
  • Eye(4.9)
  • Nervous system(4.8)
  • Liver(4.4)
  • Kidney(3.3)
  • Skin(3.2)
  • Thyroid gland(2.7)
  • Intestine(2.6)
  • Lung(2.5)
  • Stomach(2.1)
  • Adrenal gland(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYAB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CRYAB: view

Orthologs for CRYAB Gene

This gene was present in the common ancestor of animals.

Orthologs for CRYAB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CRYAB 29 30
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CRYAB 29 30
  • 94.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CRYAB 29 30
  • 93.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cryab 29
  • 91.81 (n)
Mouse
(Mus musculus)
Mammalia Cryab 29 16 30
  • 91.24 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CRYAB 30
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CRYAB 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CRYAB 29 30
  • 74.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CRYAB 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cryab 29
  • 67.05 (n)
Str.8597 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.7573 29
Zebrafish
(Danio rerio)
Actinopterygii cryabb 29 30
  • 65.85 (n)
OneToMany
cryaba 30
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)efl 29
  • 55.63 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007162 29
  • 52.89 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.195 30
  • 36 (a)
OneToMany
Species where no ortholog for CRYAB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CRYAB Gene

ENSEMBL:
Gene Tree for CRYAB (if available)
TreeFam:
Gene Tree for CRYAB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRYAB: view image
Alliance of Genome Resources:
Additional Orthologs for CRYAB

Paralogs for CRYAB Gene

(6) SIMAP similar genes for CRYAB Gene using alignment to 9 proteins:

  • CRYAB_HUMAN
  • C3VMY8_HUMAN
  • E9PJL7_HUMAN
  • E9PNH7_HUMAN
  • E9PR44_HUMAN
  • E9PRA8_HUMAN
  • E9PRS4_HUMAN
  • E9PS12_HUMAN
  • H0YCW8_HUMAN
genes like me logo Genes that share paralogs with CRYAB: view

Variants for CRYAB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRYAB Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1007325 Uncertain Significance: Dilated cardiomyopathy 1II 111,910,349(-) T/A
NM_001289808.2(CRYAB):c.302A>T (p.His101Leu)
MISSENSE
1007609 Uncertain Significance: Dilated cardiomyopathy 1II 111,908,859(-) C/G
NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)
MISSENSE
1014222 Uncertain Significance: Dilated cardiomyopathy 1II 111,910,449(-) T/A
NM_001289808.2(CRYAB):c.202A>T (p.Met68Leu)
INITIATIOR_CODON_VARIANT,MISSENSE
1018839 Uncertain Significance: Dilated cardiomyopathy 1II 111,908,919(-) G/C
NM_001289808.2(CRYAB):c.373C>G (p.Pro125Ala)
MISSENSE
1019020 Uncertain Significance: Dilated cardiomyopathy 1II 111,911,621(-) G/A
NM_001289808.2(CRYAB):c.104C>T (p.Ser35Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CRYAB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CRYAB Gene

Variant ID Type Subtype PubMed ID
nsv1070987 CNV deletion 25765185
nsv482162 CNV loss 20164927

Variation tolerance for CRYAB Gene

Residual Variation Intolerance Score: 66.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYAB Gene

Human Gene Mutation Database (HGMD)
CRYAB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYAB
Leiden Open Variation Database (LOVD)
CRYAB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYAB Gene

Disorders for CRYAB Gene

MalaCards: The human disease database

(42) MalaCards diseases for CRYAB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CRYAB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRYAB_HUMAN
  • Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: 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. {ECO:0000269 PubMed:12601044, ECO:0000269 PubMed:14681890, ECO:0000269 PubMed:21920752, ECO:0000269 PubMed:9731540}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cataract 16, multiple types (CTRCT16) [MIM:613763]: 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. {ECO:0000269 PubMed:11577372}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=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. {ECO:0000269 PubMed:28493373}.
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB) [MIM:613869]: 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. {ECO:0000269 PubMed:21337604}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:16483541, ECO:0000269 PubMed:16793013}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CRYAB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CRYAB: view

No data available for Genatlas for CRYAB Gene

Publications for CRYAB Gene

  1. Alpha B-crystallin mutation in dilated cardiomyopathy. (PMID: 16483541) Inagaki N … Kimura A (Biochemical and biophysical research communications 2006) 3 4 22 72
  2. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. (PMID: 11577372) Berry V … Quinlan RA (American journal of human genetics 2001) 3 4 22 72
  3. The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. (PMID: 28493373) Brodehl A … Milting H (Human mutation 2017) 3 4 72
  4. A novel CRYAB mutation resulting in multisystemic disease. (PMID: 21920752) Sacconi S … Urtizberea A (Neuromuscular disorders : NMD 2012) 3 4 72
  5. Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. (PMID: 19461931) Safieh LA … Alkuraya FS (Molecular vision 2009) 3 22 72

Products for CRYAB Gene

Sources for CRYAB Gene