Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

ABSTRACT:

Background

Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene encoding the cytosolic antioxidant enzyme Cu, Zn-superoxide dismutase (SOD1). The underlying molecular defect is known only in a very small portion of the remaining cases and therefore involvement of other genes is likely. As SOD1 receives copper, essential for its normal function, by the copper chaperone, CCS (Copper Chaperone for SOD), we considered CCS as a potential candidate gene for ALS.

Results

We have characterized the genomic organization of CCS and determined exon-intron boundaries. The 823 bp coding region of the CCS is organized

SUBMITTER: Silahtaroglu AN 

PROVIDER: S-EPMC107843 | biostudies-literature | 2002 Apr

REPOSITORIES: biostudies-literature