Cloned (Comment) | Organism |
---|---|
gene Agps, semiquantitative RT-PCR expression analysis of wild-type and mutant enzymes | Mus musculus |
Protein Variants | Comment | Organism |
---|---|---|
additional information | generation of gene Agps knockout mice, phenotype, overview | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O00116 | gene Agps | - |
Mus musculus | Q8C0I1 | gene Agps | - |
Mus musculus C57/BL6J | Q8C0I1 | gene Agps | - |
Synonyms | Comment | Organism |
---|---|---|
AGPS | - |
Homo sapiens |
AGPS | - |
Mus musculus |
alkylglycerone phosphate synthase | - |
Homo sapiens |
alkylglycerone phosphate synthase | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | cataracts and male infertility in blind sterile 2 (bs2) mice are caused by a spontaneous hypomorphic mutation in gene agp. Infertility in bs2 mice is due to the aberrant formation of multicellular cellular clusters that undergo apoptosis. The majority of Agps knock-out mice die embryonically. Correlations of RCDP3 and bs2 phenotypes, detailed overview | Mus musculus |
malfunction | mutations in alkylglycerone phosphate synthase cause rhizomelic chondrodysplasia punctata, RCDP type 3 (RCDP3), a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of the proximal limbs, neurological abnormalities, seizures, growth delays, and severe intellectual disability. RCDP children die in the first decade of life due to respiratory complications, clinical phenotypes. Correlations of RCDP3 and bs2 phenotypes, detailed overview | Homo sapiens |