This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.
GJC3; gap junction protein, gamma 3, 30.2kDa; gap junction protein, epsilon 1, 29kDa , GJE1; gap junction gamma-3 protein; connexin 30.2; CX30.2; connexin 29; connexin-30.2; connexin-31.3; gap junction epsilon-1 protein; CX29; GJE1; CX31.3
GJC3 has several biochemical functions, for example, protein homodimerization activity. Some of the functions are cooperated with other proteins, some of the functions could acted by GJC3 itself. We selected most functions GJC3 had, and list some proteins which have the same functions with GJC3. You can find most of the proteins on our site.
Function protein homodimerization activity
Related Protein PDE2A; TIGIT; CD226; PYCARD; UGT1A6A; PVRL1A; SMAD4; ASGR1; GALE; SNX6
GJC3 Related Articles
Su, CC; Li, SY; et al. Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss. CELL BIOCHEMISTRY AND BIOPHYSICS 66:277-286(2013).
Kooshavar, D; Tabatabaiefar, MA; et al. Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 77:189-193(2013).