FAM86JP
Fam86jp: A Comprehensive Overview
Description
FAM86JP (Family with sequence similarity 86, member J) is a protein-coding gene. It encodes a protein that belongs to the FAM86 family, which is characterized by its six transmembrane domains and its role in regulating membrane trafficking.
The FAM86JP protein is expressed in various tissues throughout the body, including the brain, liver, and kidneys. It localizes to the Golgi apparatus and endosomes, where it functions in sorting and transporting proteins.
Associated Diseases
Mutations in the FAM86JP gene have been linked to several diseases, including:
- Gastrointestinal stromal tumors (GISTs): GISTs are a type of cancer that occurs in the gastrointestinal tract. Mutations in FAM86JP have been identified in a subset of GISTs, and they are associated with a more aggressive disease course and a higher risk of metastasis.
- Colorectal cancer: Mutations in FAM86JP have also been found in some cases of colorectal cancer. These mutations may promote tumor growth and metastasis.
- Pulmonary hypertension: Pulmonary hypertension is a condition characterized by high blood pressure in the lungs. Mutations in FAM86JP have been associated with an increased risk of developing pulmonary hypertension.
- Other diseases: Mutations in FAM86JP have also been linked to other diseases, such as acute myeloid leukemia, T-cell lymphoma, and familial platelet disorder with predisposition to acute myeloid leukemia.
Did you Know ?
- Approximately 5-10% of GISTs harbor mutations in the FAM86JP gene.
