- atx-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables cysteine-type deubiquitinase activity. Involved in chemical synaptic transmission. Located in cytoplasm and nucleus. Expressed in coelomocyte; head; somatic nervous system; and tail neurons. Used to study Machado-Joseph disease. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Is an ortholog of human ATXN3 (ataxin 3) and ATXN3L (ataxin 3 like).
- F43B10.1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable protein phosphatase regulator activity. Predicted to be part of protein phosphatase type 2A complex. Is an ortholog of human PPP2R3A (protein phosphatase 2 regulatory subunit B''alpha) and PPP2R3B (protein phosphatase 2 regulatory subunit B''beta).
- ldh-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables L-lactate dehydrogenase activity. Predicted to be involved in lactate metabolic process and pyruvate metabolic process. Predicted to be located in mitochondrion. Expressed in tail. Is an ortholog of several human genes including LDHA (lactate dehydrogenase A); LDHB (lactate dehydrogenase B); and LDHC (lactate dehydrogenase C).
- srp-8 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular space. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; artery disease (multiple); autoimmune disease (multiple); and lung disease (multiple). Is an ortholog of several human genes including SERPINB1 (serpin family B member 1); SERPINB8 (serpin family B member 8); and SERPINB9 (serpin family B member 9).
- Atxn3 [Search on AGR]
Homo sapiens Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]