CRYAB - crystallin alpha B Gene

Also Known as MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1410

About CRYAB

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:111,908,564-111,923,740 (from NCBI)

This gene has 21 transcripts (splice variants), 218 orthologues, 8 paralogues and is associated with 14 phenotypes. Biased expression in heart (RPKM 784.6), brain (RPKM 268.6) and 5 other tissues.

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. [provided by RefSeq, Jan 2019]

CRYAB Products (6)

mRNA Protein Name
NM_001289807.1 NP_001276736.1 alpha-crystallin B chain isoform 1
NM_001289808.2 NP_001276737.1 alpha-crystallin B chain isoform 1
NM_001330379.1 NP_001317308.1 alpha-crystallin B chain isoform 2
NM_001368245.1 NP_001355174.1 alpha-crystallin B chain isoform 1
NM_001368246.1 NP_001355175.1 alpha-crystallin B chain isoform 2
NM_001885.3 NP_001876.1 alpha-crystallin B chain isoform 1
Molecular Function GO Annotation Evidence References Source
enables amyloid-beta binding IPI
IPI: Inferred from physical interaction
23106396 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
12601044 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11700327 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
19646995 GOA
enables protein-containing complex binding IPI
IPI: Inferred from physical interaction
23106396 GOA
enables structural molecule activity IDA
IDA: Inferred from direct assay
16303126 GOA
enables unfolded protein binding IPI
IPI: Inferred from physical interaction
16303126 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within cellular response to gamma radiation IMP
IMP: Inferred from mutant phenotype
23542032 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
20587334 GOA
involved in negative regulation of amyloid fibril formation IDA
IDA: Inferred from direct assay
23106396 GOA
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
14752512 GOA
involved in negative regulation of intracellular transport IDA
IDA: Inferred from direct assay
14752512 GOA
involved in negative regulation of protein-containing complex assembly IDA
IDA: Inferred from direct assay
23106396 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
12235146 GOA
acts upstream of or within regulation of programmed cell death IMP
IMP: Inferred from mutant phenotype
23542032 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14752512 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19464326 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
16303126 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYAB Protein Structure

Crystallin

Crystallin: Alpha crystallin A chain, N terminal (1 - 59)

HSP20

HSP20: Hsp20/alpha crystallin family (68 - 161)

  • 0
  • 100
  • 175 a.a.
Protein Preferred Names Protein Names

alpha-crystallin B chain

  • epididymis secretory protein Li 101

CRYAB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CRYAB P02511 ADAMTSL4 Homo sapiens Q6UY14-3 32814053
Intra
CRYAB P02511 ADAMTSL4 Homo sapiens Q6UY14-3 32814053
Intra
CRYAB P02511 ADAMTSL4 Homo sapiens Q6UY14-3 32814053
Intra
CRYAB P02511 CRYGS Homo sapiens P22914
NMR
24183572
Intra
CRYAB P02511 CRYGS Homo sapiens P22914
DLS
24183572
Intra
CRYAB P02511 KRTAP6-1 Homo sapiens Q3LI64 32296183
Cross
CRYAB P02511 Tmem109 Mus musculus Q3UBX0
Y2H
23542032
Intra
CRYAB P02511 HSPB1 Homo sapiens P04792 28514442
Intra
CRYAB P02511 HSPB1 Homo sapiens P04792 33961781
Intra
CRYAB P02511 HSPB1 Homo sapiens P04792
Y2H
18330356
Intra
CRYAB P02511 HSPB1 Homo sapiens P04792 12601044
Intra
CRYAB P02511 HSPB1 Homo sapiens P04792
NMR
23188086
Intra
CRYAB P02511 CTNNB1 Homo sapiens P35222 22158051
Intra
CRYAB P02511 CTNNB1 Homo sapiens P35222 32814053
Intra
CRYAB P02511 CTNNB1 Homo sapiens P35222 32814053
Intra
CRYAB P02511 CTNNB1 Homo sapiens P35222 22158051
Intra
CRYAB P02511 CTNNB1 Homo sapiens P35222 32814053
Intra
CRYAB P02511 CRYGC Homo sapiens P07315 11700327
Intra
CRYAB P02511 CRYGC Homo sapiens P07315
Y2H
12601044
Intra
CRYAB P02511 CRYGC Homo sapiens P07315
Y2H
11700327
Intra
CRYAB P02511 CRYAA Homo sapiens P02489
Y2H
12601044
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 11700327
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 22153508
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 25910212
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 32296183
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 11700327
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 25910212
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 32296183
Intra
CRYAB P02511 CRYAA Homo sapiens P02489
NMR
23188086
Intra
CRYAB P02511 CRYAA Homo sapiens P02489 25910212
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 12601044
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 22143763
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
TEM
22153508
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
DLS
19651604
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
NMR
22153508
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
Y2H
12601044
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 22143763
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
TEM
21464278
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 22153508
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 19651604
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
TEM
19651604
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
NMR
20802487
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
Y2H
18330356
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 21464278
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
NMR
23188086
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
GMS
19651604
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 21464278
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 22143763
Intra
CRYAB P02511 CRYAB Homo sapiens P02511
TEM
22143763
Intra
CRYAB P02511 CRYAB Homo sapiens P02511 20802487
Intra
CRYAB P02511 HSPB2 Homo sapiens Q16082
NMR
23188086
Intra
CRYAB P02511 HSPB2 Homo sapiens Q16082
Y2H
26465331
Intra
CRYAB P02511 GORASP2 Homo sapiens Q9H8Y8 32296183
Intra
CRYAB P02511 APP Homo sapiens P05067 32814053
Intra
CRYAB P02511 APP Homo sapiens P05067 32814053
Intra
CRYAB P02511 APP Homo sapiens P05067 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CRYAB Proteins

Cat. No. Product Name Accession Purity
HY-P7873 Alpha-crystallin B chain/CRYAB Protein, Human (His) P02511 (M1-K175) ≥ 95%, as determined by reducing SDS-PAGE.

CRYAB Antibodies

Cat. No. Product Name Application Reactivity
HY-P81547 Alpha B Crystallin Antibody (YA1292) WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, IP Human, Rat, Mouse
HY-P85110 Alpha B Crystallin Antibody (YA4802) WB, IHC-P, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Myopathy, Myofibrillar, 2
  • Alpha-B Crystallinopathy

  • Myofibrillar Myopathy 2

  • MFM2

  • Myopathy, Myofibrillar, Alpha-B Crystallin-Related

  • Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene

  • Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy

  • Alpha-B Crystallin-Related Late-Onset Myopathy

  • Alpha-B Crystallin-Related Late-Onset Distal Myopathy

  • Late-Onset Distal Crystallinopathy

  • Alpha-B Crystallinopathy With Cataract

  • Desmin-Related Myopathy With Cataract

  • Mfm Alpha-B Crystallin-Related

  • Myofibrillar Myopathy Alpha-B Crystallin-Related

  • Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy

  • Myopathy Cardioskeletal Desmin-Related With Cataract

  • Myopathy Desmin-Related Associated With Mutation In The Cryab Gene

  • Myopathy, Cardioskeletal, Desmin-Related, With Cataract

  • Myopathy, Myofibrillar, Type 2

Cardiomyopathy, Dilated, 1ii
  • CMD1II

  • Dilated Cardiomyopathy 1ii

  • Cardiomyopathy, Dilated 1ii

  • Cardiomyopathy, Dilated, Type 1ii

Cataract 16, Multiple Types
  • Cataract 16 Multiple Types

  • CTRCT16

  • Ctpp2

  • Cataract, Posterior Polar, 2

  • Posterior Polar Cataract 2

  • Cataract, Congenital Lamellar

  • Congenital Lamellar Cataract

Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
  • Mfm, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related

  • MFMFIH-CRYAB

  • Mfm Fatal Infantile Hypertonic Alpha-B Crystallin-Related

Fatal Infantile Hypertonic Myofibrillar Myopathy
Cardiomyopathy, Familial Restrictive, 1
  • RCM1

  • Restrictive Cardiomyopathy 1

  • Rcm

  • Familial Restrictive Cardiomyopathy 1

  • Cardiomyopathy, Familial Restrictive 1

  • Cardiomyopathy, Restrictive, Familial, Type 1

  • Rcm-1

Early-Onset Posterior Polar Cataract
Early-Onset Lamellar Cataract
Early-Onset Nuclear Cataract
Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

Posterior Polar Cataract
  • Cataract, Posterior Polar

Alexander Disease
  • Alexander'S Disease

  • ALXDRD

  • Alexanders Leukodystrophy

  • Axd

  • Demyelinogenic Leukodystrophy

  • Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia

  • Alx

  • Dysmyelinogenic Leukodystrophy

  • Fibrinoid Degeneration Of Astrocytes

  • Leukodystrophy With Rosenthal Fibers

  • Alexander Disease Type Ii

  • Axd Type Ii

  • Alexander Disease Type I

  • Axd Type I

  • Alexanders Disease

  • Alexander'S Leukodystrophy

Myopathy
  • Muscular Diseases

  • Myopathies

Myofibrillar Myopathy
  • Desmin Related Myopathy

  • Myotilinopathy

  • Myopathy, Myofibrillar

  • Alpha Beta Crystallinopathy

  • Desmin Storage Myopathy

  • Desminopathy

  • Filaminopathy

  • Protein Surplus Myopathy

  • Zaspopathy

  • Myofibrillar Myopathies

  • Myopathy, Myofibrillar, Desmin-Related

  • Myopathy, Desmin Storage

  • Mfm - [Myofibrillar Myopathy]

Myopathy, Myofibrillar, 1
  • Desmin-Related Myofibrillar Myopathy

  • Desmin-Related Myopathy

  • MFM1

  • Myopathy, Myofibrillar, Desmin-Related

  • Drm

  • Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

  • Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

  • Myofibrillar Myopathy 1

  • Desminopathy

  • Muscular Dystrophy, Limb-Girdle, Type 2r

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

  • Desminopathy, Primary

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

  • Arvd7, Formerly

  • Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

  • Arvc7, Formerly

  • Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

  • Ibm1, Formerly

  • Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

  • Cmd1f And Lgmd1d, Formerly

  • Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

  • Cdcd3, Formerly

  • Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

  • Lgmd2r, Formerly

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

  • Arrhythmogenic Right Ventricular Cardiomyopathy 7

  • Arvc7

  • Arvd7

  • Autosomal Dominant Inclusion Body Myopathy 1

  • Cdcd3

  • Cmd1f And Lgmd1d

  • Desminopathy Primary

  • Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

  • Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

  • Familial Arrhythmogenic Right Ventricular Dysplasia 7

  • Lgmd2r

  • Limb-Girdle Muscular Dystrophy 2r

  • Mfm Desmin-Related

  • Myopathy Myofibrillar Desmin-Related

  • Dystrophy, Muscular, Limb-Girdle, Type 2r

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Presbyopia
  • Subnormal Accommodation

  • Accommodation Insufficiency Of Old Age

Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

Neuronopathy, Distal Hereditary Motor, Type Iic
  • HMN2C

  • Hmn Iic

  • Dhmn2c

  • Distal Hereditary Motor Neuronopathy Type 2c

  • Distal Hereditary Motor Neuropathy Type Iic

  • Neuronopathy, Distal Hereditary Motor, Type 2c

  • Neuropathy, Distal Hereditary Motor, Type Iic

  • Neuronopathy, Distal Hereditary Motor, 2c

  • Dhmn Iic

  • Neuropathy, Motor, Distal, Hereditary, Type 2c

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Creutzfeldt-Jakob Disease
  • Variant Creutzfeldt-Jakob Disease

  • CJD

  • Bovine Spongiform Encephalopathy

  • Vcjd

  • Inherited Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Disease, Familial

  • Creutzfeldt Jakob Disease

  • Creutzfeldt-Jacob Disease

  • Creutzfeldt Jacob Disease

  • Sporadic Creutzfeldt-Jakob Disease

  • Encephalopathy, Bovine Spongiform

  • Creutzfeldt-Jakob Disease, Variant, Resistance To

  • Creutzfeldt-Jakob Disease, Variant

  • Creutzfeldt Jacob Syndrome

  • Jakob-Creutzfeldt Disease

  • Subacute Spongiform Encephalopathy

  • Transmissible Virus Dementia

  • New Variant Of Cjd

  • Nv-Cjd

  • Variant Cjd

  • Variant Creutzfeldt-Jacob Disease

  • Sporadic Cjd

  • Inherited Cjd

  • Acquired Creutzfeldt-Jakob Disease

  • Variant Mcj

  • Encephalopathy Bovine Spongiform

  • Familial Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Syndrome

  • New Variant Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Disease, Sporadic

  • Acquired Cjd

  • Scjd - [Sporadic Creutzfeldt-Jakob Disease]

  • Idiopathic Creutzfeldt-Jakob Disease

  • Creutzfeld-Jakob Disease Nos

  • Vcjd - [Variant Creutzfeldt-Jakob Disease]

Subependymal Giant Cell Astrocytoma
  • Sega

  • Astrocytoma Subependymal Giant Cell

  • Subependymal Giant-Cell Astrocytoma

Myopathy, Myofibrillar, 4
  • Myofibrillar Myopathy 4

  • MFM4

  • Zaspopathy

  • Myopathy, Myofibrillar, Zasp-Related

Multiple Sclerosis
  • MS

  • Multiple Sclerosis, Susceptibility To

  • Disseminated Sclerosis

  • Multiple Sclerosis, Disease Progression, Modifier Of

  • Insular Sclerosis

  • Multiple Sclerosis Modifier Of Disease Progression

  • Multiple Sclerosis, Susceptibility To 1

  • Multiple Sclerosis, Susceptibility To, 1

  • Multiple Sclerosis 1

  • Generalized Multiple Sclerosis

  • Multiple Sclerosis Variant

  • Multiple Sclerosis Susceptibility To

  • Cerebrospinal Sclerosis

  • Generalised Multiple Sclerosis

  • Ms - [Multiple Sclerosis]

  • Disseminated Cerebrospinal Sclerosis

  • Disseminated Multiple Sclerosis

  • Disseminated Nervous System Myelosclerosis

  • Multiple Cerebrospinal Sclerosis

  • Multiple Combined Sclerosis

  • Multiple Sclerosis Generalised

  • Disseminated Brain Sclerosis

  • Disseminated Spinal Sclerosis

  • Insular Brain Sclerosis

  • Miliary Brain Sclerosis

  • Multiple Combined Sclerosis Of Spinal Cord

  • Multiple Ascending Sclerosis

  • Multiple Brain Sclerosis

  • Multiple Sclerosis Of Brain Stem

  • Multiple Sclerosis Of The Brain Stem

  • Multiple Sclerosis Of Cord

  • Sclérose En Plaques

  • Plaque Sclerosis

  • Multiple Sclerosis Of The Spinal Cord

Myopathy, Myofibrillar, 5
  • Myofibrillar Myopathy 5

  • MFM5

  • Myopathy, Myofibrillar, Filamin C-Related

  • Filaminopathy, Autosomal Dominant

  • Filaminopathy

  • Muscle Filaminopathy

  • Autosomal Dominant Filaminopathy

  • Mfm Filamin C-Related

  • Myopathy Myofibrillar Filamin C-Related

  • Myopathy, Myofibrillar, Type 5

Myopathy, Myofibrillar, 6
  • Myofibrillar Myopathy 6

  • MFM6

  • Myopathy, Myofibrillar, Bag3-Related

  • Bag3-Related Myofibrillar Myopathy

  • Muscular Dystrophy, Selcen Type

  • Mfm Bag3-Related

  • Muscular Dystrophy Selcen Type

  • Myopathy Myofibrillar Bag3-Related

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Intraocular Pressure Quantitative Trait Locus
  • Glaucoma

  • IOPQTL

  • Glaucoma, Susceptibility To

  • Postinfectious Glaucoma

  • Glaucoma With Ocular Inflammation

  • Glaucoma Secondary To Eye Inflammation

  • Traumatic Glaucoma

  • Glaucoma With Concussion Of Globe

  • Glaucoma Due To Ocular Trauma

  • Glaucoma Associated With Ocular Trauma

  • Glaucoma Secondary To Drugs

Distal Hereditary Motor Neuronopathy Type 2
  • Distal Hereditary Motor Neuropathy, Type Ii

  • Distal Hereditary Motor Neuropathy Type 2

  • Distal Hereditary Motor Neuropathy Type Ii

  • Hmn Ii

  • Hmn2

  • Distal Hereditary Motor Neuronopathy, Type Ii

  • Distal Spinal Muscular Atrophy Type 2

  • Dhmn2

  • Dsma2

  • Neuropathy, Motor, Distal, Hereditary, Type Ii

  • Spinal Muscular Atrophy, Jerash Type

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Myopathy, Myofibrillar, 9, With Early Respiratory Failure
  • Hereditary Myopathy With Early Respiratory Failure

  • Hmerf

  • Myopathy, Proximal, With Early Respiratory Muscle Involvement

  • Edstrom Myopathy

  • Mfm-Titinopathy

  • MFM9

  • Mprm

  • Hereditary Inclusion Body Myopathy With Early Respiratory Failure

  • Hibm-Erf

  • Myofibrillar Myopathy-Titinopathy

  • Myofibrillar Myopathy With Early Respiratory Failure

  • Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

  • Myofibrillar Myopathy 9

  • Myofibrillar Myopathy 9 With Early Respiratory Failure

  • Autosomal Dominant Distal Myopathy With Early Respiratory Failure

  • Proximal Myopathy With Early Respiratory Muscle Involvement

  • Hereditary Proximal Myopathy With Early Respiratory Failure

  • Admerf

  • Edström Myopathy

  • Hmerf-Erf

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Myotonic Dystrophy 1
  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Multiple System Atrophy 1
  • Multiple System Atrophy

  • Shy-Drager Syndrome

  • Msa

  • MSA1

  • Multiple System Atrophy 1, Susceptibility To

  • Sporadic Olivopontocerebellar Atrophy

  • Multisystem Atrophy

  • Msa1, Susceptibility To

  • Multiple System Atrophy, Susceptibility To

  • Opca

  • Progressive Autonomic Failure With Multiple System Atrophy

  • Sds

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Myopathy, Myofibrillar, 3
  • Myotilinopathy

  • Myofibrillar Myopathy 3

  • MFM3

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

  • Lgmd1a

  • Muscular Dystrophy, Limb-Girdle, Type 1a

  • Myopathy, Myofibrillar, Myotilin-Related

  • Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

  • Lgmd1, Formerly

  • Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

  • Lgmd1a, Formerly

  • Qualitative Or Quantitative Defects Of Myotilin

  • Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

  • Distal Myotilinopathy

  • Lgmd1

  • Limb-Girdle Muscular Dystrophy 1a

  • Mfm Myotilin-Related

  • Muscular Dystrophy, Limb-Girdle, Type 1

  • Myopathy Myofibrillar Myotylin-Related

  • Myopathy, Myofibrillar, Type 3

Leukodystrophy
  • Leukodystrophies

Lens Disease
  • Lens Diseases

Retinal Degeneration
  • Degeneration Of Retina

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Central Nervous System Disease
  • Cns Disorder

  • CNS

  • Cns Diseases

  • Central Nervous System Diseases

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris CRYAB VGNC VGNC:39635
Macaca mulatta CRYAB VGNC VGNC:71501
Felis catus CRYAB VGNC VGNC:61197
Bos taurus CRYAB VGNC VGNC:27732
Mus musculus CRYAB MGD MGI:88516
Rattus norvegicus CRYAB RGD RGD:2414
Others CRYAB NCBI