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