Ataxin 2 Like Protein (ATXN2L)

ATXN2L encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene.

ATXN2L contains 3 domains that share significant homology with ataxin-2. The N terminus of ATXN2L has 8 interrupted glutamines replacing the polyglutamine tract of ataxin-2. Northern blot analysis detected major ATXN2L transcripts at 4.0 and 4.5 kb expressed at high levels in thymus, lymph node, spleen, fetal kidney, and adult testis. ATXN2L was also expressed in several other hematopoietic and fetal tissues.