CDH16
CDH16 is a gene that in humans encodes the cadherin 16 protein. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This gene is a type-II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type-II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type-I cadherins. This particular cadherin is expressed specifically in the kidney and is believed to play a role in the morphological organization of kidney cells during its development.
Function[edit | edit source]
The CDH16 gene encodes a type-II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Cadherin 16 is expressed specifically in the kidney and is believed to play a role in the morphological organization of kidney cells during development.
Clinical significance[edit | edit source]
Mutations in the CDH16 gene have been associated with congenital anomalies of the kidney and urinary tract (CAKUT). This condition is characterized by a range of developmental abnormalities of the kidneys and the urinary tract that can lead to diverse outcomes such as renal dysplasia, hydronephrosis, ureteropelvic junction obstruction, and vesicoureteral reflux.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- CDH16 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD