CRYBA4 - crystallin beta A4 Gene

Homo sapiens

Also known as CYRBA4; CTRCT23; MCOPCT4

Gene ID: 1413 | Gene type: protein coding

About CRYBA4

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,590,220-26,630,669 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues, 14 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

CRYBA4 Products(1)

mRNA	Protein	Name
NM_001886.3	NP_001877.1	beta-crystallin A4

CRYBA4 Protein Structure

Crystall

0
100
196 a.a.

Protein Preferred Names

Protein Names

beta-crystallin A4

beta crystallin A4 chain transcript PS

Related Diseases

Diseases

Alias

Cataract 23, Multiple Types

Cataract 23	CTRCT23
Lamellar Cataract 23	Cataract 23, Multiple Types, With Or Without Microcornea
Isolated Microphthalmia With Cataract 4	Mcopct4
Cataract, Type 23	Microphthalmia, Isolated, With Cataract 4

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

Early-Onset Lamellar Cataract

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Cataract

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

Trichothiodystrophy 6, Nonphotosensitive

TTD6	Nonphotosensitive Trichothiodystrophy 6
Trichothiodystrophy 6, Non-Photosensitive

Nonphotosensitive Trichothiodystrophy

Trichothiodystrophy Nonphotosensitive

Amish Brittle Hair Brain 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

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

Posterior Polar Cataract

Cataract, Posterior Polar

Retinitis Pigmentosa 29

RP29

Isolated Microphthalmia

Galactosemia Ii

Galactokinase Deficiency	Galk Deficiency
Galactokinase Deficiency With Cataracts	Deficiency Of Galactokinase
GALAC2	Galk-D
Galactokinase Deficiency Galactosemia	Galactosemia 2
Galactosemia Type 2	Hereditary Galactokinase Deficiency
Galactokinase Deficiency, Cataract	Galactosemias
Galk - [Galactokinase Deficiency]

Syndromic Microphthalmia

Microphthalmia, Syndromic

Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome	Ofcd Syndrome
MCOPS2	Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects
Syndromic Microphthalmia 2	Anop2
Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome	Maa2
Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects	Syndromic Microphthalmia Type 2
Oculo-Facio-Cardio-Dental Syndrome	Anop2, Formerly
Maa2, Formerly	Microphthalmia Syndromic 2
Oculo Facio Cardio Dental Syndrome	Microphthalmia, Syndromic, 2
Marashi-Gorlin Syndrome	Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects
Microphthalmia, Syndromic, Type 2

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Porencephaly

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

Lens Disease

Lens Diseases

Lens Subluxation

Subluxation Of Lens

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

Iris Disease

Iris Diseases

Amblyopia

Lazy Eye

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

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-RS03209	CRYBA4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CRYBA4	MGD	MGI:102716
Felis catus	CRYBA4	VGNC	VGNC:61200
Bos taurus	CRYBA4	VGNC	VGNC:27735
Macaca mulatta	CRYBA4	VGNC	VGNC:71503
Rattus norvegicus	CRYBA4	RGD	RGD:61962
Canis familiaris	CRYBA4	VGNC	VGNC:39638

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