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connexin-30; gap junction protein beta-6 (CX30, GJB6)
Function:
- connexins form gap junctions
Compartment:
- membrane, multipass
- gap junction
Pathology:
- defects in Cx30 are the cause of
a) ectodermal dysplasia type 2
b) deafness autosomal recessive type 1B
c) deafness autosomal dominant type 3B
Properties
GENERAL: connexin
CONFIGURATION: hexamer
SIZE: MW = 28-32 kD
COMPARTMENT: plasma membrane
MOTIF: cytoplasmic domain {N-TERMINAL}
transmembrane domain {TM1}
exoplasmic loop
MOTIF: cysteine residue {C1}
MODIFICATION: cysteine residue {C2}
cysteine residue {C2}
MODIFICATION: cysteine residue {C1}
LOOP#: 1
transmembrane domain {TM2}
cytoplasmic loop
MOTIF: Tyr phosphorylation site {cytoplasmic loop}
PEST region
SITE: cytoplasmic loop
calmodulin binding site
SITE: cytoplasmic loop
FOR-BINDING-OF: calmodulin
transmembrane domain {TM3}
exoplasmic loop
MOTIF: cysteine residue {C3}
MODIFICATION: cysteine residue {C4}
cysteine residue {C4}
MODIFICATION: cysteine residue {C3}
LOOP#: 2
transmembrane domain {TM4}
cytoplasmic domain {C-TERMINAL}
MISC-INFO: CHANNEL_DIAMETER 1.5-2 NM
CONDUCTANCE 100 PS
References
Swiss Prot :accession O95452