FBXO38
Description
The FBXO38 (F-box protein 38) is a protein-coding gene located on chromosome 5.
FBXO38, also known as F-box only protein 38, is a protein encoded by the FBXO38 gene in humans. Mutations in this gene are linked to distal spinal muscular atrophy with calf predominance. FBXO38 plays a role in regulating the composition of centromeric chromatin by controlling the stability of ZXDA/B nuclear factors. In mice, a deficiency in the Fbxo38 gene leads to impaired spermatogenesis and growth retardation.
FBXO38 is a component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. This complex targets PDCD1/PD-1 for degradation, thereby regulating T-cell mediated immunity. FBXO38 is essential for anti-tumor activity of T-cells by promoting PDCD1/PD-1 degradation, preventing tumor evasion of the immune system. It may also indirectly stimulate the activity of the transcription factor KLF7, a regulator of neuronal differentiation, without directly affecting KLF7 ubiquitination.
FBXO38 is also known as Fbx38, HMN2D, HMND6, MOKA, SP329.
