PMID- 14769358 OWN - NLM STAT- MEDLINE DCOM- 20040402 LR - 20151119 IS - 0014-4886 (Print) IS - 0014-4886 (Linking) VI - 184 IP - 2 DP - 2003 Dec TI - Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. PG - 669-78 AB - 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. FAU - Figueroa, Karla P AU - Figueroa KP AD - 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 FAU - Pulst, Stefan M AU - Pulst SM LA - eng PT - Comparative Study PT - Journal Article PL - United States TA - Exp Neurol JT - Experimental neurology JID - 0370712 RN - 0 (Ataxins) RN - 0 (Nerve Tissue Proteins) RN - 0 (Protein Isoforms) RN - 0 (Proteins) SB - IM MH - Amino Acid Sequence MH - Animals MH - Ataxins MH - Blotting, Northern MH - Blotting, Western MH - Chromosome Mapping MH - Chromosomes, Human, Pair 16 MH - Cloning, Molecular MH - Humans MH - Molecular Sequence Data MH - Nerve Tissue Proteins MH - Protein Isoforms/chemistry/genetics MH - Proteins/*chemistry/*genetics MH - Sequence Analysis, DNA MH - Sequence Analysis, Protein MH - Sequence Homology, Amino Acid MH - Sequence Homology, Nucleic Acid MH - Species Specificity MH - Spinocerebellar Ataxias/genetics EDAT- 2004/02/11 05:00 MHDA- 2004/04/03 05:00 CRDT- 2004/02/11 05:00 PHST- 2003/01/06 00:00 [received] PHST- 2003/05/15 00:00 [revised] PHST- 2003/05/21 00:00 [accepted] PHST- 2004/02/11 05:00 [pubmed] PHST- 2004/04/03 05:00 [medline] PHST- 2004/02/11 05:00 [entrez] AID - S0014488603002875 [pii] AID - 10.1016/S0014-4886(03)00287-5 [doi] PST - ppublish SO - Exp Neurol. 2003 Dec;184(2):669-78. doi: 10.1016/S0014-4886(03)00287-5.