Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2002 Jan;163(1-2):1-11.
doi: 10.1016/s0378-5955(01)00344-6.

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa

Gautam Bhattacharya  1 , Caroline Miller, William J Kimberling, Monica M Jablonski, Dominic Cosgrove
Affiliations

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa

Gautam Bhattacharya et al. Hear Res. 2002 Jan.

Abstract

People with Usher's syndrome type IIa have mutations in a novel gene encoding a protein with domains commonly found in many types of extracellular matrix and cell surface receptor proteins. Here we report that this protein, which we refer to as usherin, is a new basement membrane protein. In the mouse, usherin has a broad, but not ubiquitous, tissue distribution. Usherin is found in all of the capillary and structural basement membranes of the human and mouse retina and in the murine inner ear at both post-natal day 0 and in the adult. High levels of usherin are also observed in tissues not affected in Usher's syndrome type IIa, including spleen, testis, oviduct, epididymis, submaxillary gland, and large and small intestines. Many organs are completely devoid of usherin, including the brain, skin, kidney, lung, liver, and skeletal muscle. Expression was observed in the smooth muscle of the small intestine, colon, and oviduct, however, usherin is not present in cardiac smooth muscle. Usherin is critical for normal development and tissue homeostasis in the inner ear and retina, illustrating yet another example of the importance of basement membranes in the development and function of tissues.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

LinkOut - more resources