PTPRF
Function
Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.
The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.
Involvement in disease
Aplasia or hypoplasia of the breasts and/or nipples 2
BNAH2
A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia).
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
LAR, PTPRF, Receptor-type tyrosine-protein phosphatase F, Leukocyte common antigen related