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Peptide sequence: CPSLLVVMHV AYREERERKH HLKHGPNAPS LYDNLSKKRG GLWWTYLLSL
Sequence homology: Cow: 92%; Dog: 92%; Horse: 100%; Human: 100%; Mouse: 86%; Rat: 92%
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: connexin 30.3; Connexin-30.3; Cx30.3; Gap junction beta-4 protein; gap junction protein, beta 4, 30.3kDa
Gene Aliases: CX30.3; EKV; GJB4
UniProt ID: (Human) Q9NTQ9
Entrez Gene ID: (Human) 127534
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