1. Gene
  2. CRYBA1 - crystallin beta A1 Gene

CRYBA1 - crystallin beta A1 Gene

中文名称:晶状体蛋白 A1

种属: Homo sapiens

同用名: CRYB1; CTRCT10

基因 ID: 1411 | 基因类型: protein coding


Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,246,859-29,254,494 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 14 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.


晶状体蛋白分为两类:分类群特异性或酶类,以及普遍存在的。后一类构成脊椎动物眼睛晶状体的主要蛋白质,并维持晶状体的透明度和折射率。由于晶状体中央纤维细胞在发育过程中会失去细胞核,因此会产生这些晶状体蛋白并在整个生命过程中保留下来,从而使它们成为极其稳定的蛋白质。哺乳动物晶状体蛋白分为 alpha、beta 和 gamma 家族; beta 和 γ 晶状体蛋白也被认为是一个超家族。 Alpha 和 Beta 家族进一步分为酸性和碱性组。晶状体蛋白中存在七个蛋白质区域:四个同源基序、一个连接肽以及 N 和 C 末端延伸。 β-晶状体蛋白是最异质的,不同之处在于 C 末端延伸的存在 (存在于碱性基团中,不存在于酸性基团中) 。 β-晶状体蛋白形成不同大小的聚集体,并能够自缔合形成二聚体或与其他β-晶状体蛋白形成异二聚体。该基因是一个 β 酸性组成员,从单个 mRNA 编码两种蛋白质 (晶状体蛋白,β A3 和晶状体蛋白,β A1) ,后一种蛋白质比晶状体蛋白,β A3 短 17 个氨基酸,并且是通过使用交替翻译起始产生的地点。外显子 3 和 4 的缺失会导致常染色体显性遗传病“伴有缝线混浊的小带白内障”。[RefSeq 提供,2008 年 7 月]

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, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]

CRYBA1 基因产物(1)

mRNA Protein Name
NM_005208.5 NP_005199.2 beta-crystallin A3

CRYBA1 蛋白结构


Crystall: Beta/Gamma crystallin (32 - 116)


Crystall: Beta/Gamma crystallin (125 - 213)

  • 0
  • 100
  • 200
  • 215 a.a.
蛋白主名 其他名称

beta-crystallin A3

beta crystallin A3 chain transcript CN


疾病名称 别名
Cataract 10, Multiple Types

Cataract 10 Multiple Types


Cataract, Congenital Zonular, With Sutural Opacities


Congenital Zonular Cataract With Sutural Opacities

Cataract, Congenital, Zonular With Sutural Opacities

Cataract, Type 10, Multiple Types

Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities

Early-Onset Posterior Polar Cataract
Early-Onset Lamellar Cataract
Early-Onset Nuclear Cataract


Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Cataract 32, Multiple Types

Cataract, Posterior Polar, 5




Cataract, Anterior Polar


Cataract 32 Multiple Types

Cataract, Anterior Polar, 1

Anterior Polar Cataract 1

Posterior Polar Cataract 5

Cataract, Anterior Polar 1

Posterior Polar Cataract

Cataract, Posterior Polar

Cataract 16, Multiple Types

Cataract 16 Multiple Types



Cataract, Posterior Polar, 2

Posterior Polar Cataract 2

Cataract, Congenital Lamellar

Congenital Lamellar Cataract

Cataract 31, Multiple Types

Cataract, Posterior Polar, 3


Cataract 31 Multiple Types



Posterior Polar Cataract 3

Cataract, Type 31, Multiple Types

Nance-Horan Syndrome


Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4



Cataract 11 Multiple Types


Cataract 11, Syndromic, Autosomal Recessive

Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

Posterior Polar Cataract 4

Posterior Polar Cataract, 4

Cataract Posterior Polar 4

Syndromic Cataract 11

Cataract, Type 11, Multiple Types

Autoimmune Optic Neuritis
Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3


Anterior Chamber Cleavage Syndrome

Anterior Segment Mesenchymal Dysgenesis

Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss

Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss

Rieger Syndrome Type 3

Axenfeld-Rieger Anomaly

Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome 3

Axenfeld Anomaly

Rieger Anomaly

Rieger Syndrome

Rieger Eye Malformation Sequence

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment



Persistent Fetal Vasculature Syndrome

Lens Disease

Lens Diseases


Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus



Lazy Eye

Aniridia 1


Congenital Aniridia



Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris


Aniridia Ii, Formerly

An2, Formerly


Aniridia Type Ii

Aniridia, Type 1


Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease




Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma


Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease


Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa


Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration


Retinitis Pigmentosa Autosomal Recessive


Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
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


种属 基因名 来源 基因 ID
Bos taurus CRYBA1 VGNC VGNC:27733
Canis familiaris CRYBA1 VGNC VGNC:39636
Rattus norvegicus CRYBA1 RGD RGD:2415
Felis catus CRYBA1 VGNC VGNC:61198
Macaca mulatta CRYBA1 VGNC VGNC:71502
Mus musculus CRYBA1 MGD MGI:88518