ubiquitin like modifier activating enzyme 5
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
E1-like enzyme which activates UFM1 and SUMO2.
From NCBI Gene:
- Epileptic encephalopathy, early infantile, 44
- Spinocerebellar ataxia, autosomal recessive 24
Epileptic encephalopathy, early infantile, 44 (EIEE44): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE44 transmission pattern is consistent with autosomal recessive inheritance. [MIM:617132]
Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging. [MIM:617133]