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Literature summary for 2.7.8.29 extracted from

  • Whyte, M.P.; Blythe, A.; McAlister, W.H.; Nenninger, A.R.; Bijanki, V.N.; Mumm, S.
    Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1 (2015), J. Bone Miner. Res., 30, 606-614.
    View publication on PubMed
Search for more literature for 2.7.8.29

Cloned(Commentary)

Cloned (Comment) Organism
gene PTDSS1 Homo sapiens

Protein Variants

Protein Variants Comment Organism
W277R naturally occuring mutation in gene PTDSS1 causing Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria, the patient shows hyperostosis and osteosclerosis resulting from accelerated bone formation, and increased PTDS biosynthesis caused by the PTDSS1 mutation leading to hyperphosphoserinuria, phenotype Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P48651
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-

Source Tissue

Source Tissue Comment Organism Textmining
bone
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 Homo sapiens
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Synonyms

Synonyms Comment Organism
phosphatidylserine synthase 1
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 Homo sapiens
PSS1
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 Homo sapiens
PTDSS1
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 Homo sapiens

General Information

General Information Comment Organism
malfunction mutation W277R of PTDSS1 encoding phosphatidylserine synthase 1 causes Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria. Lenz-Majewski hyperostotic dwarfism (LMHD) is an ultra-rare Mendelian craniotubular dysostosis that causes skeletal dysmorphism and widely distributed osteosclerosis. In vivo, PTDSS1 defects cause LMHD and support enhanced biosynthesis of PTDS in the pathogenesis of LMHD, while in vitro, these PTDSS1 mutations are gain-of-function and increase PTDS production. Phenotype, overview Homo sapiens
physiological function isozyme PSS1 promotes the biosynthesis of phosphatidylserine (PTDS), which is a functional constituent of lipid bilayers. PTDS binds calcium within matrix vesicles to engender hydroxyapatite crystal formation, and may enhance mesenchymal stem cell differentiation leading to osteogenesis Homo sapiens