title: 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.
authors.affiliation: Rose Moss Neurogenetics Laboratory for Parkinson and Related Diseases, CSMS Burns and Allen Research Institute, Division of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA. PULST@CSHS.ORG
authors.forename: Karla P
authors.initials: KP
authors.lastname: Figueroa
authors.forename: Stefan M
authors.initials: SM
authors.lastname: Pulst
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000067528:Ataxins; D015152:Blotting, Northern; D015153:Blotting, Western; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D011506:Proteins / Q000737:chemistry* / Q000235:genetics*; D017422:Sequence Analysis, DNA; D020539:Sequence Analysis, Protein; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D020754:Spinocerebellar Ataxias / Q000235:genetics
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms; D011506:Proteins