Harmonizome 3.0

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

cerebellar degeneration-related protein 2

cerebellar degeneration-related protein 2-like

Enables identical protein binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Epilepsy, juvenile myoclonic 3

epilepsy, juvenile myoclonic 2

Myoclonic epilepsy, juvenile, 4

Epilepsy, juvenile myoclonic, susceptiblity to, 9

Cerebellar degeneration-related autoantigen-3

cerebellar degeneration-related protein 2, 62kDa

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

cerebellar degeneration-related protein 1, 34kDa

Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010]

dystonia 15, myoclonic

cerebellar atrophy with progressive microcephaly

Infantile myoclonic epilepsy

Cerebral-cerebellar-coloboma syndrome, X-linked

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

ataxia, cerebellar, Cayman type

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]