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FLASH GENE

Symbol

GJB3

contributors: np - updated : 02-05-2006

HGNC name	gap junction protein, beta 3, 31kDa
HGNC id	4285

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four hydrophobic transmembrane segments separating the N terminal intracellular domain
	two extracellular loops
	a C terminal intracellular domain, conserved arrangement of three cysteine residues in each extracellular loop
	three potential phosphorylation sites

HOMOLOGY

interspecies

homolog to murine Gjb3

Homologene

FAMILY	connexin family
	beta-type groupe 1 subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	cytoplasmic localization of the mutant proteins

basic FUNCTION	playing a role in synchronized cellular response to a variety of intercellular signals by regulating the diffusion of small molecules between the cytoplasm and adjacent cells
	playing a role in enhancing neurite outgrowth, a key feature of neuronal differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

monomer constituent of the connexon (six subunits)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNAC , EKV , PNHI

related resource

The Connexin-deafness homepage Hereditary Hearing Loss Homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS