CRYBB1 - crystallin beta B1 Gene

Homo sapiens

Also known as CATCN3; CTRCT17

Gene ID: 1414 | Gene type: protein coding

About CRYBB1

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,599,278-26,618,027 (from NCBI)

This gene has 2 transcripts (splice variants), 186 orthologues, 14 paralogues and is associated with 6 phenotypes. Broad expression in placenta (RPKM 1.8), spleen (RPKM 0.7) and 21 other tissues.

Summary

Crystallins are separated into two classes: taxon-specific, or Enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

CRYBB1 Products(1)

mRNA	Protein	Name
NM_001887.4	NP_001878.1	beta-crystallin B1

CRYBB1 Protein Structure

Crystall

0
100
200
252 a.a.

Protein Preferred Names

Protein Names

beta-crystallin B1

beta-B1 crystallin

Related Diseases

Diseases

Alias

Cataract 17, Multiple Types

CTRCT17	Cataract, Congenital Nuclear, Autosomal Recessive 3
Catcn3	Cataract 17 Multiple Types
Cataract 17, Multiple Types, With Or Without Microcornea	Autosomal Recessive Congenital Nuclear Cataract 3

Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome

Cataract 30, Multiple Types

CTRCT30	Cataract 30, Pulverulent
Pulverulent Cataract	Coppock-Like Cataract
Dusty Cataract	Pulverulent Cataract 30
Cataract 30	Cataract, Pulverulent

Early-Onset Nuclear Cataract

Cataract 9, Multiple Types

Cataract 9 Multiple Types	CTRCT9
Cataract, Autosomal Dominant	Catc1
Cataract 9, Multiple Types, With Or Without Microcornea	Cataract, Autosomal Recessive Congenital 1
Autosomal Recessive Congenital Cataract 1	Cataract 9 Multiple Types With Or Without Microcornea
Autosomal Dominant Congenital Cataract	Cataract Autosomal Dominant
Cataracts, Autosomal Dominant

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Deafness, Autosomal Recessive 59

DFNB59	Autosomal Recessive Nonsyndromic Deafness 59
Autosomal Recessive Deafness 59	Deafness, Autosomal Recessive, 59
Dfnb59 Auditory Neuropathy	Deafness, Autosomal Recessive, Type 59

Nance-Horan Syndrome

NHS	Cataract-Dental Syndrome
Cataract, X-Linked, With Hutchinsonian Teeth	Mesiodens-Cataract Syndrome
Cataract X-Linked With Hutchinsonian Teeth	Cataract Dental Syndrome
Mesiodens Cataract Syndrome

Abruzzo-Erickson Syndrome

Abruzzo Erickson Syndrome	ABERS
Charge-Like Syndrome, X-Linked	Cleft Palate-Coloboma-Deafness Syndrome
Charge Like Syndrome X-Linked	Charge-Like Syndrome
Cleft Palate-Coloboma-Hearing Loss Syndrome	X-Linked Charge-Like Syndrome

Triosephosphate Isomerase Deficiency

TPID	Triose Phosphate-Isomerase Deficiency
Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency	Tpi Deficiency
Triose Phosphate Isomerase Deficiency	Deficiency Of Phosphotriose Isomerase
Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency

Posterior Polar Cataract

Cataract, Posterior Polar

Senile Cataract

Amblyopia

Lazy Eye

Lens Disease

Lens Diseases

Diabetic Cataract

Cataract - Diabetic

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment	Ncrna Disease
Non-Syndromic Congenital Retinal Non-Attachment	Pfvs
Phpv	Persistent Fetal Vasculature Syndrome

Iris Disease

Iris Diseases

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03210	CRYBB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CRYBB1	VGNC	VGNC:27736
Mus musculus	CRYBB1	MGD	MGI:104992
Rattus norvegicus	CRYBB1	RGD	RGD:2416
Macaca mulatta	CRYBB1	VGNC	VGNC:71504
Felis catus	CRYBB1	VGNC	VGNC:61201
Canis familiaris	CRYBB1	VGNC	VGNC:39639

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