GJB6


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Related to GJB6: GJB2

GJB6

Notation for a gene for DFNA3.

GJB6

A gene on chromosome 13q11-q12.1|13q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB6 mutations occur in some hereditary forms of deafness and hidrotic ectodermal dysplasia.
References in periodicals archive ?
In the process of our experiments, we found that the expression of GJB6 mutants induced HatCaT cell death within 48 h (8).
The HaCaT cell line and the Tet-on expression system were used to stably express vectors containing the wild-type GJB6 gene and its mutant variants A88Vand G11R.
Kong et al., "A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia," Journal of the European Academy of Dermatology and Venereology, vol.
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.
In order to confirm this for both the biopaper and PET models, GJB4 and GJB6 were included on the array as negative controls.
[6] Could other potential candidate genes, GJB6 (connexin 30) and GJA1 (connexin 43), lead to non-syndromic deafness in Africans?
We performed a series of molecular investigations and reviewed the literature with the aim of validating the clinical utility of testing for GJB2, GJB6 and GJA1 in the African context.
Segun reportes en poblacion espano la, esta mutacion ocupa el tercer lugar en frecuencia luego de las mutaciones 35delg en el gen gJB2, y del (gJB6D13S1830) en el gen gJB6. Estas mutaciones se han reportado en un 28-63% de afectados con la 35delg en poblacion europea y 5,9-9,7% de afectados con la mutacion del (GJB6-D13S1830) [18-21].
En los estudios previos ya se habia secuenciado el gen GJB2 y se habian tamizado las dos deleciones reportadas en el gen GJB6. A estos 649 individuos con sordera no sindromica se les realizo busqueda de la mutacion p.Q829X.
O loco DFNB1 contem dois genes associados com a DA, o gene GJB2 codificando a conexina 26 (OMIM 12011) e o GJB6 codificando a conexina 30 (OMIM 604418).
Prevalende of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.