GJB6 - gap junction protein beta 6 Gene

Homo sapiens

Also known as ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B

Gene ID: 10804 | Gene type: protein coding

About GJB6

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:20,221,962-20,232,319 (from NCBI)

This gene has 14 transcripts (splice variants), 284 orthologues, 20 paralogues and is associated with 12 phenotypes. Biased expression in esophagus (RPKM 49.4), bone marrow (RPKM 18.1) and 3 other tissues.

Summary

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

GJB6 Products(7)

mRNA	Protein	Name
NM_001110219.3	NP_001103689.1	gap junction beta-6 protein
NM_001110220.3	NP_001103690.1	gap junction beta-6 protein
NM_001110221.3	NP_001103691.1	gap junction beta-6 protein
NM_001370090.1	NP_001357019.1	gap junction beta-6 protein
NM_001370091.1	NP_001357020.1	gap junction beta-6 protein
NM_001370092.1	NP_001357021.1	gap junction beta-6 protein
NM_006783.5	NP_006774.2	gap junction beta-6 protein

GJB6 Protein Structure

Connexin

0
100
200
261 a.a.

Protein Preferred Names

Protein Names

gap junction beta-6 protein

connexin 30

Related Diseases

Diseases

Alias

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

Deafness, Autosomal Dominant 3b

DFNA3B	Autosomal Dominant Nonsyndromic Deafness 3b
Autosomal Dominant Deafness 3b	Deafness, Autosomal Dominant, 3b
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b
Deafness, Autosomal Dominant, Type 3b

Deafness, Autosomal Recessive 1b

DFNB1B	Autosomal Recessive Nonsyndromic Deafness 1b
Autosomal Recessive Deafness 1b	Deafness, Autosomal Recessive, 1b
Deafness Digenic Gjb2/Gjb6	Deafness Neurosensory Autosomal Recessive 1
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
Nsrd1	Deafness, Autosomal Recessive, Type 1b

Deafness, Autosomal Recessive 1a

DFNB1A	Deafness, Digenic, Gjb2/Gjb3
Autosomal Recessive Nonsyndromic Deafness 1a	Deafness, Digenic, Gjb2/Gjb6
Deafness, Digenic Gjb2/Gjb6	Autosomal Recessive Deafness 1a
Deafness, Autosomal Recessive, 1a	Deafness Digenic Gjb2/Gjb3
Deafness Digenic Gjb2/Gjb6	Deafness Neurosensory Autosomal Recessive 1
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
Nsrd1	Deafness, Autosomal Recessive, Type 1a

Hidrotic Ectodermal Dysplasia 2

Clouston Syndrome	Ectodermal Dysplasia 2, Hidrotic
Hidrotic Ectodermal Dysplasia

Dfnb1

Gjb2-Related Deafness	Connexin 26 Deafness
Deafness Nonsyndromic, Connexin 26 Linked

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Kid Syndrome	Keratitis-Ichthyosis-Deafness Syndrome
Senter Syndrome	KIDAD
Kid Syndrome, Autosomal Dominant	Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome
Ichthyosis Hystrix Rheydt Type	Kid/Hid Syndrome
Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome	Keratitis Ichthyosis And Deafness Syndrome
Autosomal Dominant Kid Syndrome	Keratitis, Ichthyosis, And Deafness Syndrome
Ichthyosiform Erythroderma, Corneal Involvement, And Deafness	Keratitis, Ichthyosis, And Deafness
Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome

Nonsyndromic Hearing Loss And Deafness, Dfnb1

Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness

Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss And Deafness

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

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

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Nonsyndromic Hearing Loss

Nonsyndromic Deafness	Nonsyndromic Hearing Impairment
Nonsyndromic Hearing Loss And Deafness	Deafness, Nonsyndromic
Isolated Deafness

Congenital Cytomegalovirus

Fetal Cytomegalovirus Syndrome	Congenital Cytomegalovirus Infection
Antenatal Cmv Infection	Antenatal Cytomegalovirus Infection
Mother-To-Child Transmission Of Cytomegalovirus Syndrome	Cmv Antenatal Infection
Congenital Cmv Infection

Hyperpigmentation Of The Skin

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct	DFNB4
Neurosensory Nonsyndromic Recessive Deafness 4	Enlarged Vestibular Aqueduct Syndrome
Nsrd4	Autosomal Recessive Nonsyndromic Deafness 4
Dilated Vestibular Aqueduct	Dva
Enlarged Vestibular Aqueduct, Digenic	Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
Large Vestibular Aqueduct Syndrome	Deafness, Autosomal Recessive, 4
Deafness Neurosensory Autosomal Recessive 4	Eva
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

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

Petroclival Meningioma

Deafness, Autosomal Dominant 12

DFNA12	Dfna8
Deafness, Autosomal Dominant 8	Deafness, Autosomal Dominant 8/12
Autosomal Dominant Nonsyndromic Deafness 12	Autosomal Dominant Deafness 12
Autosomal Dominant Deafness 8	Deafness, Autosomal Dominant, 12
Deafness Autosomal Dominant 8	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12
Deafness, Autosomal Dominant, Type 12

Keratitis, Hereditary

Keratitis	Autosomal Dominant Keratitis
Hereditary Keratitis	Dominantly Inherited Keratitis
Keratitis Hereditary	KERH

Deafness, Autosomal Dominant 6

DFNA6	Dfna14
Dfna38	Deafness, Autosomal Dominant 6/14/38
Autosomal Dominant Nonsyndromic Deafness 6	Deafness, Autosomal Dominant 14
Deafness, Autosomal Dominant 38	Autosomal Dominant Deafness 14
Autosomal Dominant Deafness 38	Autosomal Dominant Deafness 6
Deafness, Autosomal Dominant, 6	Deafness Autosomal Dominant 14
Deafness Autosomal Dominant 38	Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Keratoderma, Palmoplantar, With Deafness

Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar Keratoderma With Deafness
Palmoplantar Hyperkeratosis-Deafness Syndrome	Palmoplantar Hyperkeratosis-Hearing Loss Syndrome
Palmoplantar Keratoderma-Hearing Loss Syndrome	Ppk-Deafness Syndrome
Keratoderma Palmoplantar Deafness	Diffuse Palmoplantar Keratoderma With Deafness
Focal Palmoplantar Keratoderma With Sensorineural Deafness	Hereditary Palmoplantar Keratoderma With Deafness
Keratoderma Palmoplantar, With Deafness	Palmoplantar Keratoderma And Sensorineural Deafness
Ppk With Deafness	PPKDFN
Keratoderma Palmoplantar, Deafness

Viral Labyrinthitis

Epidemic Vertigo

Vestibular Neuronitis

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Purulent Labyrinthitis

Suppurative Labyrinthitis	Acute Suppurative Labyrinthitis
Bacterial Labyrinthitis

Blepharoconjunctivitis

Deafness, Autosomal Dominant 59

DFNA59	Autosomal Dominant Nonsyndromic Deafness 59
Autosomal Dominant Deafness 59

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

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

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Christ-Siemens-Touraine Syndrome	XHED
Ectodermal Dysplasia 1	Xlhed
Ed1	Cst Syndrome
Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked	Ectd1
Ectodermal Dysplasia, Anhidrotic, X-Linked	Eda
Eda1	Hed1
Ectodermal Dysplasia 1, Anhidrotic	X-Linked Anhidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrotic X-Linked Ectodermal Dysplasia
Ectodermal Dysplasia, Hypohidrotic, 1	Hypohidrotic Ectodermal Dysplasia, X-Linked
Anhidrotic Ectodermal Dysplasia X-Linked	Hypohidrotic Ectodermal Dysplasia X-Linked
Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked	Ectodermal Dysplasia Anhidrotic

Vestibular Disease

Vestibular Diseases	Vertigo, Vestibular Disorder
Vestibular Disorder	Diseases Of Inner Ear

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

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

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

Deafness, Autosomal Dominant 64

DFNA64	Autosomal Dominant Nonsyndromic Deafness 64
Autosomal Dominant Deafness 64	Deafness, Autosomal Dominant, 64
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64
Deafness, Autosomal Dominant, Type 64

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Labyrinthitis

Labyrinthine Disorder	Inner Ear Inflammation
Otitis Interna	Labyrinth Hyperaemia

Deafness, Autosomal Recessive 15

DFNB15	Dfnb72
Dfnb95	Deafness, Autosomal Recessive 72
Autosomal Recessive Nonsyndromic Deafness 15	Deafness, Autosomal Recessive 95
Autosomal Recessive Deafness 15	Autosomal Recessive Deafness 72
Autosomal Recessive Deafness 95	Deafness, Autosomal Recessive, 15
Deafness Autosomal Recessive 72	Deafness Autosomal Recessive 95
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15
Deafness, Autosomal Recessive, Type 15

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia	Hed
Anhidrotic Ectodermal Dysplasia	Ectodermal Dysplasia, Hypohidrotic
Eda	Christ-Siemens-Touraine Syndrome
ECTD10B	Ectodermal Dysplasia Anhidrotic
Ectodermal Dysplasia, Anhidrotic	Cst Syndrome
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic	Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal Dysplasia 3, Anhidrotic	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1	Cmtx
Charcot-Marie-Tooth Disease X-Linked Dominant 1	Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
X-Linked Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
Cmt1x	X-Linked Charcot-Marie-Tooth Disease Type 1
X-Linked Hereditary Motor And Sensory Neuropathy	Hereditary Motor And Sensory Neuropathy, X-Linked
Hmsn, X-Linked	Charcot-Marie-Tooth Neuropathy, X-Linked, 1
Cmt2, Formerly	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
Charcot-Marie-Tooth Neuropathy X-Linked 1	Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
Hereditary Motor And Sensory Neuropathy X-Linked	Hmsn X-Linked
Charcot-Marie-Tooth, X-Linked	Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
Charcot-Marie-Tooth Disease, X-Linked, 1

Deafness, Autosomal Dominant 9

DFNA9	Autosomal Dominant Nonsyndromic Deafness 9
Autosomal Dominant Deafness 9	Deafness, Autosomal Dominant, 9
Deafness, Autosomal Dominant, Type 9

Charcot-Marie-Tooth Disease Type X

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

Waardenburg Syndrome, Type 1

Waardenburg Syndrome Type 1	WS1
Waardenburg Syndrome Type I	Waardenburg Syndrome With Dystopia Canthorum
Waardenburg'S Syndrome Type 1	Waardenburg Syndrome 1
Waardenburg Syndrome, Type I	Waardenburg Syndrome

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome	Jervell-Lange Nielsen Syndrome
Prolonged Qt Interval In Ekg And Sudden Death	Cardioauditory Syndrome Of Jervell And Lange-Nielsen
Surdo-Cardiac Syndrome	JLNS1
Deafness, Congenital, And Functional Heart Disease	Jlns
Long Qt Interval-Deafness Syndrome	Jervell And Lange-Nielson Syndrome
Jervell Lange-Nielsen Syndrome	Autosomal Recessive Long Qt Syndrome
Cardio-Auditory-Syncope Syndrome	Long Qt Interval-Hearing Loss Syndrome
Congenital Deafness And Functional Heart Disease	Long Qt Interval-Deafness

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Waardenburg'S Syndrome

Waardenburg Syndrome	Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome	Waardenburg Shah Syndrome
Waardenburg, Types I And/Or Ii	Mende Syndrome
Waardenburgs Syndrome	Waardenburg Syndrome, Type 4a

Orchitis

Inflammation Of Testis	Orchititis
Mumps Orchitis

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Deafness, Autosomal Recessive 12

DFNB12	Deafness, Autosomal Recessive 12, Modifier Of
Autosomal Recessive Nonsyndromic Deafness 12	Autosomal Recessive Deafness 12
Deafness, Autosomal Recessive, 12	Congenital Neurosensory Deafness Autosomal Recessive 12
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
Deafness, Autosomal Recessive, Type 12

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome	Bor Syndrome
Branchiootorenal Dysplasia	Melnick-Fraser Syndrome
Branchiootorenal Spectrum Disorders	Branchio-Otorenal Dysplasia
Branchio Oto Renal Syndrome	Branchiootorenal/Branchiootic Syndrome
Bo Syndrome	Bor
Bos	Branchio-Otorenal Syndrome
Branchiootic Syndrome	Branchiootorenal Syndrome
Branchiootic Syndrome 1

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

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

Corneal Disease

Corneal Diseases

Corneal Disorders

Otosclerosis

Otospongiosis

Usher Syndrome, Type I

USH1	Usher Syndrome Type 1
Us1	Usher Syndrome, Type 1b
Usher Syndrome Type 1e	Retinitis Pigmentosa And Congenital Deafness
Usher Syndrome, Type Ie	USH1E
Usher Syndrome, Type 1e	Usher Syndrome, Type 1a
Usher Syndrome, Type Ib	Usher Syndrome Type 1b
Usher Syndrome Type Ie	Usher Syndrome Type I
Usher 1	Usher Syndrome, Type 1
Ush1a	Usher Syndrome, Type I, French Variety
Usher Syndrome, Type Ia	Usher Syndrome 1b
USH1B	Usher'S Syndrome Type 1b
Usher Syndrome Type Ib	Ushib

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Usher Syndrome Type 2

Ush2	Usher Syndrome Type Ii

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

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

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05451	GJB6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GJB6	VGNC	VGNC:41242
Felis catus	GJB6	VGNC	VGNC:62567
Rattus norvegicus	GJB6	RGD	RGD:621830
Mus musculus	GJB6	MGD	MGI:107588
Bos taurus	GJB6	VGNC	VGNC:29381
Macaca mulatta	GJB6	VGNC	VGNC:73064