ASCC3 Summary

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ASCC3 Details

Gene Symbol : ASCC3

Gene Name : Activating signal cointegrator 1 complex subunit 3

Chromosome : CHR 6: 100,881,371-100,508,193

Locus : 6q16.3

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SYNE1 Summary

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE1 Details

Gene Symbol : SYNE1

Gene Name : Spectrin repeat containing nuclear envelope protein 1

Chromosome : CHR 6: 152,637,398-152,121,683

Locus : 6q25.2

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