A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness

The GAIP interacting protein c terminus (GIPC) genes encode a small family of proteins characterized by centrally located PDZ domains. GIPC3 encodes a 312 amino acid protein. Variants of human GIPC3 are associated with non-syndromic hearing loss. GIPC3 is one of over a hundred different genes with v...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Xinxin, Shi, Lin, Wang, Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Synaptic Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872657/
https://www.ncbi.nlm.nih.gov/pubmed/36704659
http://dx.doi.org/10.3389/fnsyn.2022.1101587
_version_ 1784877449930080256
author Li, Xinxin
Shi, Lin
Wang, Liang
author_facet Li, Xinxin
Shi, Lin
Wang, Liang
author_sort Li, Xinxin
collection PubMed
description The GAIP interacting protein c terminus (GIPC) genes encode a small family of proteins characterized by centrally located PDZ domains. GIPC3 encodes a 312 amino acid protein. Variants of human GIPC3 are associated with non-syndromic hearing loss. GIPC3 is one of over a hundred different genes with variants causing human deafness. Screening for variants of GIPC3 is essential for early detection of hearing loss in children and eventually treatment of deafness. Accordingly, this paper assesses the status of research developments on the role of GIPC3 in hereditary deafness and the effects of pathogenic variants on the auditory system.
format Online
Article
Text
id pubmed-9872657
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-98726572023-01-25 A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness Li, Xinxin Shi, Lin Wang, Liang Front Synaptic Neurosci Synaptic Neuroscience The GAIP interacting protein c terminus (GIPC) genes encode a small family of proteins characterized by centrally located PDZ domains. GIPC3 encodes a 312 amino acid protein. Variants of human GIPC3 are associated with non-syndromic hearing loss. GIPC3 is one of over a hundred different genes with variants causing human deafness. Screening for variants of GIPC3 is essential for early detection of hearing loss in children and eventually treatment of deafness. Accordingly, this paper assesses the status of research developments on the role of GIPC3 in hereditary deafness and the effects of pathogenic variants on the auditory system. Frontiers Media S.A. 2023-01-06 /pmc/articles/PMC9872657/ /pubmed/36704659 http://dx.doi.org/10.3389/fnsyn.2022.1101587 Text en Copyright © 2023 Li, Shi and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Synaptic Neuroscience
Li, Xinxin
Shi, Lin
Wang, Liang
A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness
title A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness
title_full A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness
title_fullStr A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness
title_full_unstemmed A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness
title_short A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness
title_sort review of the mechanisms underlying the role of the gipc3 gene in hereditary deafness
topic Synaptic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872657/
https://www.ncbi.nlm.nih.gov/pubmed/36704659
http://dx.doi.org/10.3389/fnsyn.2022.1101587
work_keys_str_mv AT lixinxin areviewofthemechanismsunderlyingtheroleofthegipc3geneinhereditarydeafness
AT shilin areviewofthemechanismsunderlyingtheroleofthegipc3geneinhereditarydeafness
AT wangliang areviewofthemechanismsunderlyingtheroleofthegipc3geneinhereditarydeafness
AT lixinxin reviewofthemechanismsunderlyingtheroleofthegipc3geneinhereditarydeafness
AT shilin reviewofthemechanismsunderlyingtheroleofthegipc3geneinhereditarydeafness
AT wangliang reviewofthemechanismsunderlyingtheroleofthegipc3geneinhereditarydeafness

Ejemplares similares