BRENDA - Reference to 2.7.8.29; Id = 740791

gene PTDSS1

Homo sapiens

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

P48651

-

bone

-

Homo sapiens

-

phosphatidylserine synthase 1

-

Homo sapiens

PSS1

-

Homo sapiens

PTDSS1

-

Homo sapiens

gene PTDSS1

Homo sapiens

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

bone

-

Homo sapiens

-

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

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

740791

Whyte

Lenz-Majewski hyperostotic dwa ...

Homo sapiens

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Gain-of-function mutations in ...

Homo sapiens

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Kimura

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Mus musculus

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Tomohiro

Purification and characterizat ...

Homo sapiens

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418

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693046

Arikketh

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Mus musculus

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675553

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Rattus norvegicus

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85

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693711

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Cricetulus griseus, Homo sapiens, Mus musculus

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Cricetulus griseus

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Mus musculus

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Cricetulus griseus, Rattus norvegicus

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717208

Stone

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Mus musculus

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Cricetulus griseus

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Cricetulus griseus

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1

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Cricetulus griseus

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19133-19139

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1

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Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1

Data extracted from this reference: