Data extracted from this reference:
Cloned(Commentary)
Engineering
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
Source Tissue
Synonyms
phosphatidylserine synthase 1
Homo sapiens
Cloned(Commentary) (protein specific)
Engineering (protein specific)
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
Source Tissue (protein specific)
General Information
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
General Information (protein specific)
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
Other publictions for EC
740791
Whyte
Lenz-Majewski hyperostotic dwa ...
Homo sapiens
J. Bone Miner. Res.
30
606-614
2015
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741056
Sousa
Gain-of-function mutations in ...
Homo sapiens
Nat. Genet.
46
70-76
2014
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722906
Kimura
Phosphatidylserine synthase 2: ...
Mus musculus
J. Lipid Res.
54
214-222
2013
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717210
Tomohiro
Purification and characterizat ...
Homo sapiens
Biochem. J.
418
421-429
2009
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693046
Arikketh
Defining the importance of pho ...
Mus musculus
J. Biol. Chem.
283
12888-12897
2008
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675553
Wen
Inhibition of phosphatidylseri ...
Rattus norvegicus
J. Neurosci. Res.
85
1568-1578
2007
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693711
Guo
Neuronal specific increase of ...
Cricetulus griseus, Homo sapiens, Mus musculus
J. Mol. Neurosci.
33
67-73
2007
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660974
Yu
Resistance to UV-induced apopt ...
Cricetulus griseus
Biochem. J.
381
609-618
2004
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661228
Grandmaison
Externalization of phosphatidy ...
Cricetulus griseus
Biochim. Biophys. Acta
1636
1-11
2004
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717768
Kuge
Purification and characterizat ...
Cricetulus griseus
J. Biol. Chem.
278
42692-42698
2003
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717766
Bergo
Defining the importance of pho ...
Mus musculus
J. Biol. Chem.
277
47701-47708
2002
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717762
Stone
Phosphatidylserine synthase-1 ...
Cricetulus griseus, Rattus norvegicus
J. Biol. Chem.
275
34534-34540
2000
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717208
Stone
Cloning and expression of muri ...
Mus musculus
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342
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1999
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717761
Kuge
Control of phosphatidylserine ...
Cricetulus griseus
J. Biol. Chem.
274
23844-23849
1999
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717759
Saito
Genetic evidence that phosphat ...
Cricetulus griseus
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17199-17205
1998
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717758
Kuge
Cloning of a Chinese hamster o ...
Cricetulus griseus
J. Biol. Chem.
272
19133-19139
1997
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