ISLR
Description
The ISLR (immunoglobulin superfamily containing leucine rich repeat) is a protein-coding gene located on chromosome 15.
The ISLR gene encodes for the immunoglobulin super family containing leucine-rich repeat (ISLR) protein. It is highly expressed in the endometrium and ovary, and is also found in 25 other tissues. The protein is localized in the cytoplasm, plasma membrane, extracellular exosome, and platelet alpha granule lumen. It plays a role in platelet degranulation, cell adhesion, and response to elevated platelet cytosolic Ca2+. The ISLR gene has two known transcript isoforms: ISLR transcript variant 1 and ISLR transcript variant 2. Both variants encode for the same protein. The gene is located on chromosome 15, spanning from 74,173,710 to 74,176,871 base pairs, and contains 3 exons and 4 introns.
The ISLR protein is involved in platelet degranulation, cell adhesion, and response to elevated platelet cytosolic Ca2+. It is localized in the cytoplasm, plasma membrane, extracellular exosome, and platelet alpha granule lumen.
ISLR is also known as HsT17563, Meflin.
Associated Diseases
- 46,XX ovotesticular disorder of sex development
- cancer
- 46,XY complete gonadal dysgenesis
- metaphyseal dysplasia, Braun-Tinschert type
- Weismann-Netter syndrome
- testicular agenesis
- caudal duplication
- 46,XY sex reversal 3
- Fuhrmann syndrome
