Literature summary for 2.5.1.26 extracted from

Liegel, R.P.; Ronchetti, A.; Sidjanin, D.J.
Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome (2014), Mol. Genet. Metab. Rep., 1, 299-311.

Search for more literature for 2.5.1.26

Cloned(Commentary)

Cloned (Comment)	Organism
gene Agps, semiquantitative RT-PCR expression analysis of wild-type and mutant enzymes	Mus musculus

Protein Variants

Protein Variants	Comment	Organism
additional information	generation of gene Agps knockout mice, phenotype, overview	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O00116	gene Agps	-
Mus musculus	Q8C0I1	gene Agps	-
Mus musculus C57/BL6J	Q8C0I1	gene Agps	-

Synonyms

Synonyms	Comment	Organism
AGPS	-	Homo sapiens
AGPS	-	Mus musculus
alkylglycerone phosphate synthase	-	Homo sapiens
alkylglycerone phosphate synthase	-	Mus musculus

General Information

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

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Release 2023.1 (January 2023)