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The protein encoded by GIPC3 belongs to the GIPC family.
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This study expands the mutational spectrum of GIPC3 in autosomal recessive nonsyndromic hearing impairment.
This study identified a novel causative mutation in GIPC3 for congenital nonsyndromic hearing loss in a consanguineous family from Saudi Arabia.
A maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.
Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes.
Gipc3 plays a pivotal role in acoustic signal acquisition and propagation in cochlear hair cells, while mutations are associated with audiogenic seizures and sensorineural hearing loss.
DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p.
Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2
The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness.
GIPC PDZ domain containing family, member 3
, PDZ domain-containing protein GIPC3
, age related hearing loss 5
, regulator of G-protein signaling 19 interacting protein 3