Developmental Malformations
Walker-Warburg syndrome
Apr. 14, 2024
This is an image preview.
Start a Free Account
to view the full image.
-
Nearly 3,000 illustrations, including video clips of neurologic disorders.
-
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
-
Full spectrum of neurology in 1,200 comprehensive articles.
-
Listen to MedLink on the go with Audio versions of each article.
Mammalian cochlear hair cell stereocilia, showing proteins and their coding genes for different components (schematic)
Proteins and their coding genes are listed for the stereocilia links (tip links, horizontal top connectors, shaft connectors, and ankle links) and between the stereocilia and the tectorial membrane. In addition, proteins that are part of the mechanoelectrical transduction (MET complex; the tectorial membrane), and some of the most relevant proteins that constitute the stereocilium are indicated. Mutated structural proteins in familial Meniere disease are indicated in bold. Ankle links and shaft connectors are not found in mature hair cells, although they are found during hair cell development. Abbreviations: ADGRV1: adhesion G-protein coupled receptor V1; CAPZA1: capping actin protein of muscle Z-line subunit alpha 1; CAPZB2: capping actin protein of muscle Z-line subunit beta 2; CEACAM16: carcinoembryonic antigen-related cell adhesion molecule 16; CIB2: calcium and integrin-binding family member 2; Clic5: chloride intracellular channel protein 5; EPS8: epidermal growth factor receptor kinase substrate 8; EPS8L2: epidermal growth factor receptor kinase substrate 8-like protein 2; LHFPL5: LHFPL (lipoma HMGIC fusion partner-like) tetraspan subfamily member 5 protein; MAGI-1: membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1; PDZD7: PDZ domain-containing protein 7; PMCA2: plasma membrane calcium-transporting ATPase 2; PTPRQ protein tyrosine phosphatase receptor type Q; RIPOR2: RHO family interacting cell polarization regulator 2; SANS: pre-mRNA splicing regulator USH1G; TMIE: transmembrane inner ear expressed protein; TMC1/2: transmembrane channel-like protein 1 and 2 dimer; TRIOBP: TRIO And F-Actin Binding Protein; TUB: tubby protein homolog; XIRP2: Xin actin-binding repeat-containing protein 2. (Source: Parra-Perez AM, Lopez-Escamez JA. Types of inheritance and genes associated with familial Meniere disease. J Assoc Res Otolaryngol 2023;24[3]:269-79. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)