GJA8 - gap junction protein alpha 8 Gene

Homo sapiens

Also known as CAE; CAE1; CX50; CZP1; MP70; CTRCT1

Gene ID: 2703 | Gene type: protein coding

About GJA8

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:147,902,795-147,914,486 (from NCBI)

This gene has 1 transcript (splice variant), 215 orthologues, 20 paralogues and is associated with 11 phenotypes. Restricted expression toward testis (RPKM 2.4).

Summary

This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]

GJA8 Products(1)

mRNA	Protein	Name
NM_005267.5	NP_005258.2	gap junction alpha-8 protein

GJA8 Protein Structure

Connexin

Connexin50

0
100
200
300
400
433 a.a.

Protein Preferred Names

Protein Names

gap junction alpha-8 protein

cell surface glycoprotein

Related Diseases

Diseases

Alias

Cataract 1, Multiple Types

Cataract 1 Multiple Types	CTRCT1
Cataract 1, Multiple Types, With Or Without Microcornea	Czp1
Cae1	Pulverulent Zonular Cataract
Cataract, Duffy-Linked	Cataract, Zonular Pulverulent, 1
Duffy Linked Cataract	Zonular Pulverulent Cataract 1
Cataract Duffy-Linked	Cataract-Microcornea Syndrome
Cataract Zonular Pulverulent 1	Ccmc
Cznp	Czp
Zonular Nuclear Pulverulent Cataract	Cataract, Zonular Pulverulent-1
Zonular Pulverulent Cataract	Cataract, Zonular Pulverulent 1
Cataract Microcornea Syndrome

Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome

Sclerocornea

Isolated Congenital Sclerocornea

Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities

Cataract 30, Multiple Types

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

Cataract 44

CTRCT44	Total Early-Onset Cataract
Cataract 44 And Hypotrichosis	Cataract And Hypotrichosis
Cataract, Type 44

Early-Onset Nuclear Cataract

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Chromosome 1q21.1 Deletion Syndrome	1q21.1 Microdeletion Syndrome
Monosomy 1q21.1	1q21.1 Microdeletion
Chromosome 1q21.1 Microdeletion Syndrome	1q21.1 Contiguous Gene Deletion
1q21.1 Deletion	Del(1)(Q21)
1q21.1 Deletion Syndrome

Cataract

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

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

Anterior Segment Dysgenesis 1

Anterior Segment Mesenchymal Dysgenesis	Anterior Segment Dysgenesis 1, Multiple Subtypes
ASGD1	Asmd
Anterior Segment Ocular Dysgenesis	Asod
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Ocular Anterior Segment Dysgenesis
Dysgenesis, Anterior Segment, Type 1	Axenfeld-Rieger Syndrome, Type 3
Irido-Corneal Dysgenesis

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 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Oculodentodigital Dysplasia

Odd Syndrome	ODDD
Oculodentoosseous Dysplasia	Oculodentodigital Syndrome
Odod	Oculo-Dento-Digital Dysplasia
Oculo-Dento-Digital Syndrome	Oculo-Dento-Osseous Dysplasia
Osseous-Oculo-Dental Dysplasia	Meyer-Schwickerath Syndrome
Oddd Syndrome	Oculo Dento Digital Dysplasia
Odds	Oculodentodigital Dysplasia Syndrome

Hereditary Lymphedema Ic

Lymphedema, Hereditary, Ic

Lmph1c

Craniometaphyseal Dysplasia, Autosomal Recessive

CMDR	Autosomal Recessive Craniometaphyseal Dysplasia
Craniometaphyseal Dysplasia, Autosomal Recessive Type	Dysplasia, Craniometaphyseal, Autosomal Recessive

Congenital Aphakia

Congenital Absence Of Lens	Aphakia, Congenital Primary
Agenesis Of Lens

Lens Disease

Lens Diseases

Posterior Polar Cataract

Cataract, Posterior Polar

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Senile Cataract

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

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14	SCA14
Ataxia, Spinocerebellar, Type 14

Palmoplantar Keratoderma And Congenital Alopecia 1

Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	PPKCA1
Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome	Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia
Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type	Ppk-Ca, Stevanovic Type
Ppkca, Stevanovic Type	Palmoplantar Keratoderma With Congenital Alopecia
Ppkca Stevanovic Type	Alopecia Congenita With Hyperkeratosis Of The Palms And Soles
Alopecia Congenita Keratosis Palmoplantaris	Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
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
Ekv-P	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

Eye Accommodation Disease

Amblyopia

Lazy Eye

Syndactyly, Type Iii

Syndactyly Type 3	SDTY3
Ring And Little Finger Syndactyly	Syndactyly Of Fingers Iv And V
Syndactyly Of Fingers 4 And 5	Ringand Little Finger Syndactyly
Syndactyly Of Fingers Four And Five	Syndactyly Of The Ring And Little Finger
Sd3	Syndactyly 3
Syndactyly Type Iii	4-5 Finger Syndactyly
Syndactyly, Type 3

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

Coloboma Of Optic Nerve

Morning Glory Disc Anomaly	Coloboma Of Optic Disc
Morning Glory Syndrome	Ectasic Coloboma
Coloboma Of Optic Papilla	Congenital Coloboma Of The Optic Nerve
Optic Nerve Coloboma	Optic Nerve Head Pits, Bilateral Congenital
Volubilis Syndrome	COLON
Coloboma Of Optic Disc, Unspecified Eye	Congenital Coloboma Of Optic Disc
Optic Disk Coloboma

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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-RS05445	GJA8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GJA8	VGNC	VGNC:29375
Macaca mulatta	GJA8	VGNC	VGNC:73058
Rattus norvegicus	GJA8	RGD	RGD:628890
Canis familiaris	GJA8	VGNC	VGNC:41236
Mus musculus	GJA8	MGD	MGI:99953
Felis catus	GJA8	VGNC	VGNC:82433