QuickView for GJB1 (gene)

Gene Symbol:

GJB1 Homo sapiens

Full name:

gap junction protein beta 1

Synonyms:

CMTX, CMTX1, CX32, gap junction beta-1 protein, GAP junction 28 kDa liver protein, connexin-32, gap junction protein, beta 1, 32kDa

Genomic Location:

Chr X: 70351787-70361777

Description:

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided ...

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This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

ZIC1_01 ,  AREB6_02 ,  EVI1_04 ,  HNF1_C ,  ZIC3_01 ,  E2A_Q2 ,  RFX1_01 ,  TATAAA_TATA_01 ,  CEBPDELTA_Q6 ,  CAGGTG_E12_Q6 ,  GGGCGGR_SP1_Q6 ,  E47_01 ,  AR_Q2 ,  RNGTGGGC_UNKNOWN ,  SCGGAAGY_ELK1_02 ,  GATA1_05 ,  SREBP_Q3 ,  PAX_Q6 ,  RYAAAKNNNNNNTTGW_UNKNOWN ,  CTTTGT_LEF1_Q2 ,  RCGCANGCGY_NRF1_Q6 ,  P300_01 ,  HNF1_Q6 ,  NFKB_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-194

Cytogenetic Map:

Xq13.1

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