The uba5 gene encodes a protein that functions as an E1-like enzyme responsible for activating UFM1 in the ufmylation pathway. This enzyme is involved in ubiquitin-like modifications and is implicated ...[+]

The uba5 gene encodes a protein that functions as an E1-like enzyme responsible for activating UFM1 in the ufmylation pathway. This enzyme is involved in ubiquitin-like modifications and is implicated in cellular processes such as endoplasmic reticulum stress response and cell proliferation. In Xenopus, it is expressed in various tissues during development, including neural and muscular systems, and is crucial for proper embryonic development. The protein localizes to the cytoplasm and is involved in protein modification pathways essential for cellular homeostasis. [-]

             developmental and epileptic encephalopathy 44

          SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD