Literature summary for 2.7.11.30 extracted from

Fujiwara, M.; Yagi, H.; Matsuoka, R.; Akimoto, K.; Furutani, M.; Imamura, S.; Uehara, R.; Nakayama, T.; Takao, A.; Nakazawa, M.; Saji, T.
Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension (2008), Circ. J., 72, 127-133.

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Cloned(Commentary)

Cloned (Comment)	Organism
activin receptor-like kinase 1 gene, ALK1 is located on chromosome 12q13, DNA and amino acid sequence determination of wild-type and mutant enzymes, genotyping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
H312Q	naturally occuring mutation in Japanese pulmonary arterial hypertension patients	Homo sapiens
L381P	naturally occuring mutation in Japanese pulmonary arterial hypertension patients	Homo sapiens
additional information	ALK1 mutations cause hereditary hemorrhagic telangiectasia in association with pulmonary arterial hypertension, PAH, in patients, determination of polymorphisms in Japanese pulmonary arterial hypertension patients, phenotypes, overview	Homo sapiens
R479Q	naturally occuring mutation in Japanese pulmonary arterial hypertension patients	Homo sapiens
R484Q	naturally occuring mutation in Japanese pulmonary arterial hypertension patients	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	ALK1 mutations cause hereditary hemorrhagic telangiectasia in association with pulmonary arterial hypertension, PAH, in patients	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P37023	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	ALK1 mutations cause hereditary hemorrhagic telangiectasia in association with pulmonary arterial hypertension, PAH, in patients	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
activin receptor-like kinase 1 gene	-	Homo sapiens
ALK1	-	Homo sapiens
BMPR2	-	Homo sapiens
bone morphogenetic protein receptor II gene	-	Homo sapiens

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Release 2023.1 (January 2023)