About: GJB1

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Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system.

Attributes	Values
rdf:type	Thing Biomolecule gene Biomolecule Gene HumanGene protein
rdfs:label	GJB1 (en) GJB1 (uk)
rdfs:comment	GJB1 (англ. Gap junction protein beta 1) – білок, який кодується однойменним геном, розташованим у людей на X-хромосомі. Довжина поліпептидного ланцюга білка становить 283 амінокислот, а молекулярна маса — 32 025. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функцією належить до фосфопротеїнів. Локалізований у клітинній мембрані, мембрані, клітинних контактах. (uk) Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system. (en)
name	Connexin-32 internal ribosome entry site (en)
dcterms:subject	Cis-regulatory RNA elements Connexins
Wikipage page ID	14061111 (xsd:integer)
Wikipage revision ID	1116589137 (xsd:integer)
Link from a Wikipage to another Wikipage	Schwann cells Membrane Nervous system Genetic screening Genetic testing Nonsense mutation GJB2 Gene Mutations Connexin Liver Peripheral nervous system Preimplantation genetic diagnosis Microphthalmia-associated transcription factor Muscle atrophy Axons Cell membranes Gap junction Hearing loss Amino acid Amino acids Cis-regulatory RNA elements Osteotomy Pancreas Cell nucleus Central nervous system Connexins Hemizygous Heterozygous Tendon transfer Transmembrane protein Kidney X chromosome Dominant trait Schwann cell Exon Charcot-Marie-Tooth disease Myelin Sex linkage Oligodendrocytes Orthoses Frameshift Missense Demyelination Nerve impulse Prenatal
Link from a Wikipage to an external page	https://www.springer.com/978-1-934115-46-6 https://web.archive.org/web/20190308172658/http:/pdfs.semanticscholar.org/ec01/cbbc56ed59d69460886172e126fa6681eda9.pdf http://pdfs.semanticscholar.org/ec01/cbbc56ed59d69460886172e126fa6681eda9.pdf https://www.ncbi.nlm.nih.gov/books/NBK1374/ https://www.ncbi.nlm.nih.gov/omim/302800,304040
sameAs	GJB1 GJB1 GJB1 GJB1 GJB1 GJB1 GJB1 GJB1
dbp:wikiPageUsesTemplate	dbt:Cite_book dbt:Cite_journal dbt:Infobox_gene dbt:Redirect dbt:Refbegin dbt:Refend dbt:Reflist dbt:Short_description dbt:Ion_channels dbt:Rfam
id	RF00484 (en)
has abstract	Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system. Mutations of the GJB1 gene affecting the signalling of and trafficking through gap junctions, resulting in an inherited peripheral neuropathy called X-linked Charcot-Marie-Tooth Disease. Complications include the demyelination of oligodendrocytes and Schwann cells, causing delayed transmission rates of nerve communication in the peripheral nervous system, due to irregularities in the normal function of the cells. This condition leads to a number of symptoms, most commonly muscle weakness and sensory problems in the outer extremities of the limbs. As a result, muscle atrophy and soft tissue injuries due to delayed nerve transmission can occur. In males, due to the hemizygousity of the X-chromosome, the symptoms and issues surrounding X-linked Charcot-Marie-Tooth disease are more prevalent. (en) GJB1 (англ. Gap junction protein beta 1) – білок, який кодується однойменним геном, розташованим у людей на X-хромосомі. Довжина поліпептидного ланцюга білка становить 283 амінокислот, а молекулярна маса — 32 025. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функцією належить до фосфопротеїнів. Локалізований у клітинній мембрані, мембрані, клітинних контактах. (uk)
gold:hypernym	Protein
prov:wasDerivedFrom	wikipedia-en:GJB1?oldid=1116589137&ns=0
page length (characters) of wiki page	14938 (xsd:nonNegativeInteger)
foaf:isPrimaryTopicOf	wikipedia-en:GJB1
is Link from a Wikipage to another Wikipage of	Charcot–Marie–Tooth disease classifications Inflammatory demyelinating diseases of the central nervous system GJB1 (gene) List of human protein-coding genes 2 Connexin-32 internal ribosome entry site Connexin-32 internal ribosome entry site (IRES) GJB2 Connexin

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