GJC1 - gap junction protein gamma 1 Gene

Homo sapiens

Also known as CX45; GJA7

Gene ID: 10052 | Gene type: protein coding

About GJC1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,794,104-44,831,364 (from NCBI)

This gene has 8 transcripts (splice variants), 270 orthologues and 20 paralogues. Broad expression in endometrium (RPKM 8.2), placenta (RPKM 7.4) and 14 other tissues.

Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight Materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

GJC1 Products(2)

mRNA	Protein	Name
NM_001080383.2	NP_001073852.1	gap junction gamma-1 protein
NM_005497.4	NP_005488.2	gap junction gamma-1 protein

GJC1 Protein Structure

Connexin

0
100
200
300
396 a.a.

Protein Preferred Names

Protein Names

gap junction gamma-1 protein

CTC-296K1.4

Related Diseases

Diseases

Alias

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

Leukodystrophy, Hypomyelinating, 2

Pmld1	Hypomyelinating Leukodystrophy 2
HLD2	Pelizaeus-Merzbacher-Like Disease 1
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation	Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-Like Disease, 1	Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease	Pmld - Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1	Pmldar1
Leukodystrophy, Hypomyelinating, Type 2

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

Clouston Syndrome

Ectodermal Dysplasia 2, Clouston Type	Hidrotic Ectodermal Dysplasia
ECTD2	Clouston'S Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia Syndrome	Clouston Hidrotic Ectodermal Dysplasia
Clouston'S Syndrome	Ed2
Ectodermal Dysplasia, Hidrotic	Hed2
Ectodermal Dysplasia	Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
Ectodermal Dysplasia, Hidrotic, 2, Formerly	Hed2, Formerly
Autosomal Dominant Hidrotic Ectodermal Dysplasia	Hed
Hidrotic Ectodermal Dysplasia, Autosomal Dominant	Hidrotic Ectodermal Dysplasia 2
Ectodermal Dysplasia 2 Hidrotic	Ectodermal Dysplasia Hidrotic Autosomal Dominant
Dysplasia, Ectodermal, Hidrotic

Hallermann-Streiff Syndrome

Francois Dyscephalic Syndrome	HSS
Hallermann'S Syndrome	Oculomandibulofacial Syndrome
Hallerman - Streiff Syndrome	François Dyscephalic Syndrome
Hallermann Streiff Francois Syndrome	Hallermann Streiff Syndrome

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

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

Bart-Pumphrey Syndrome

Knuckle Pads, Leukonychia, And Sensorineural Deafness	BAPS
Knuckle Pads, Leuconychia And Sensorineural Deafness	Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome	Knuckle Pads, Deafness And Leukonychia Syndrome
Knuckle Pads, Deafness, And Leukonychia Syndrome	Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3	FASPS3
Familial Advanced Sleep Phase Syndrome 3	Sleep Phase Syndrome, Advanced, Familial, Type 3

Vohwinkel Syndrome

Mutilating Keratoderma	Keratoderma Hereditarium Mutilans
Khm	VOWNKL
Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes	Mutilating Keratoderma Of Vohwinkel
Mutilating Keratoderma Plus Deafness	Ppk Mutilans And Deafness
Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes	Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes
Palmoplantar Keratoderma Mutilans	Palmoplantar Keratoderma Mutilans Vohwinkel
Ppk Mutilans Vohwinkel	Mutilating Keratoderma Plus Hearing Loss
Ppk Mutilans And Hearing Loss

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

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia	CMDD
Cmdj	Cmd
Autosomal Dominant Craniometaphyseal Dysplasia	Craniometaphyseal Dysplasia, Jackson Type
Craniometaphyseal Dysplasia Jackson Type	Autosomal Recessive Craniometaphyseal Dysplasia
Cmdr	Dysplasia, Craniometaphyseal, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive Type

Sinoatrial Node Disease

Sa Node	Sinuatrial Node
Sinus Node Dysfunction

Atrioventricular Block

Av Block

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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

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

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-RS05452	GJC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GJC1	RGD	RGD:628889
Mus musculus	GJC1	MGD	MGI:95718
Felis catus	GJC1	VGNC	VGNC:99065
Canis familiaris	GJC1	VGNC	VGNC:41243
Macaca mulatta	GJC1	VGNC	VGNC:73057
Bos taurus	GJC1	VGNC	VGNC:29382

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