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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ARID1B Summary

This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

ARID1B Details

Gene Symbol : ARID1B

Gene Name : AT-rich interaction domain 1B

Chromosome : CHR 6: 156,777,846-157,210,778

Locus : 6q25.3

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