PJA1
Description
The PJA1 (praja ring finger ubiquitin ligase 1) is a protein-coding gene located on chromosome X.
The human PJA1 gene encodes for the enzyme E3 ubiquitin-protein ligase Praja1. PJA1 has been shown to interact with the proteins UBE2D2 and MAGED1.
PJA1 acts as an E3 ubiquitin ligase, requiring an E2 enzyme to function. It specifically targets MAGED1 for ubiquitination, leading to its degradation through the proteasome pathway. PJA1 may also play a role in protein sorting.
PJA1 is also known as PRAJA1, RNF70.
Associated Diseases
- craniofrontonasal syndrome
- trigonocephaly
- neutropenia, severe congenital, 2, autosomal dominant
- anterior segment dysgenesis 7
- autosomal dominant keratitis
- Peters anomaly
- congenital primary aphakia
- combined immunodeficiency with skin granulomas
- 46,XX testicular disorder of sex development
