Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 (SCAN1)

Alias:

Scan1

Spinocerebellar Ataxia with Axonal Neuropathy Type 1

Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 1

Ataxia, Spinocerebellar, Autosomal Recessive with Axonal Neuropathy

Scan1, Tdp1-Related Spinocerebellar Ataxia with Axonal Neuropathy

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Spinocerebellar Ataxia with Axonal Neuropathy 1

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Gene & Mutation

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References Literature

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1, also known as scan1, is related to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 and axonal neuropathy. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 is TDP1 (Tyrosyl-DNA Phosphodiesterase 1), and among its related pathways/superpathways are Packaging Of Telomere Ends and Homology Directed Repair. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are ataxia and areflexia

Related ID：

MALACARDS：SPN430

OMIM：607250

MESH：D002524