PRAMEF9
Description
The PRAMEF9 (PRAME family member 9) is a protein-coding gene located on chromosome 1.
PRAMEF9 acts as a substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex. This complex plays a crucial role in tagging target proteins for degradation through ubiquitination. Specifically, CRL2(PRAMEF9) targets truncated MSRB1/SEPX1 selenoproteins, which are produced when the UGA/Sec decoding process fails. By ubiquitinating these truncated proteins, PRAMEF9 facilitates their removal from the cell.
PRAMEF9 is also known as -.
Associated Diseases
- partial chromosome Y deletion
- spermatogenic failures 50
- spermatogenic failure, X-linked, 2
- spermatogenic failure 25
- spermatogenic failure 63
- isochromosomy Yp
- male infertility with teratozoospermia due to single gene mutation
- isolated asymptomatic elevation of creatine phosphokinase
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
- spermatogenic failure 48
- isochromosomy Yq
- spermatogenic failure 65
- spermatogenic failure, X-linked, 3
- spermatogenic failure 72
- spinocerebellar ataxia type 32
- congenital bilateral absence of vas deferens
- spermatogenic failure 44
- spermatogenic failure 40
- spermatogenic failure 39
- spermatogenic failure 47