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The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.
Gene Name: | spastic paraplegia 11 (autosomal recessive) |
Synonyms: | SPG11, KIAA1840, Spastic paraplegia 11 protein, Spatacsin |
Target Sequences: | NM_025137 NP_079413.3 Q96JI7 |
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