FBXO10
Description
The FBXO10 (F-box protein 10) is a protein-coding gene located on chromosome 9.
FBXO10 is a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. It mediates the ubiquitination and degradation of BCL2, an antiapoptotic protein, thereby playing a role in apoptosis by controlling the stability of BCL2. FBXO10 also targets the receptor for advanced glycation end products RAGE for ubiquitination and subsequent lysosomal degradation. It directly controls HGAL/GCSAM ubiquitination and degradation, thereby decreasing BCR signaling.
FBXO10 is also known as FBX10, PRMT11.
Associated Diseases
- Griscelli syndrome type 3
- piebald trait-neurologic defects syndrome
- uncombable hair syndrome
- oculocutaneous albinism type 3
- microcephaly-albinism-digital anomalies syndrome
- hemoglobin D disease
- dehydrated hereditary stomatocytosis
- hemoglobin E-beta-thalassemia syndrome
- oculocerebral hypopigmentation syndrome, Cross type
- Tietz syndrome
- ermine phenotype
- hypotrichosis simplex
- Waardenburg syndrome, IIa 2F
- familial pseudohyperkalemia
