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Identification and expression of the gene for human ataxin-2-related protein on chromosome 16.

Abstract
Spinocerebellar ataxia type 2 (SCA2) is a human neurodegenerative disease caused by mutation in the ataxin-2 gene on human chromosome 12. Ataxin-2 is a protein of unknown function. We identified a new family of proteins designated as ataxin-2-related proteins (A2RPs), with high homology at the nucleotide and predicted amino acid levels. Ataxin-2 and A2RP are proteins highly conserved in evolution with orthologs in mouse, cattle, pig, frog, and plants. A2RP has several isoforms with different C-terminal domains. The longest isoform is composed of 1051 amino acids and has widespread expression in human tissues by Northern and Western blot analyses.
AuthorsKarla P Figueroa, Stefan M Pulst
JournalExperimental neurology (Exp Neurol) Vol. 184 Issue 2 Pg. 669-78 (Dec 2003) ISSN: 0014-4886 [Print] United States
PMID14769358 (Publication Type: Comparative Study, Journal Article)
Chemical References
  • Ataxins
  • Nerve Tissue Proteins
  • Protein Isoforms
  • Proteins
Topics
  • Amino Acid Sequence
  • Animals
  • Ataxins
  • Blotting, Northern
  • Blotting, Western
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16
  • Cloning, Molecular
  • Humans
  • Molecular Sequence Data
  • Nerve Tissue Proteins
  • Protein Isoforms (chemistry, genetics)
  • Proteins (chemistry, genetics)
  • Sequence Analysis, DNA
  • Sequence Analysis, Protein
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Species Specificity
  • Spinocerebellar Ataxias (genetics)

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