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Literature summary for 3.4.21.109 extracted from

  • Basel-Vanagaite, L.; Attia, R.; Ishida-Yamamoto, A.; Rainshtein, L.; Ben Amitai, D.; Lurie, R.; Pasmanik-Chor, M.; Indelman, M.; Zvulunov, A.; Saban, S.; Magal, N.; Sprecher, E.; Shohat, M.
    Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase (2007), Am. J. Hum. Genet., 80, 467-477.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene ST14, localization at 11q24.3-q25, DNA and amino acid sequence determination and anaylsis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
G827R a naturally occuring missense mutation in the highly conserved peptidase S1–S6 domain, causing autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair, phenotype, overview Homo sapiens
additional information genotyping and mutation mapping, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
membrane matriptase is a type II transmembrane serine protease Homo sapiens 16020
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutation in gene ST14 causes autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair, overview ?
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y5Y6 gene ST14
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mutation in gene ST14 causes autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair, overview Homo sapiens ?
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 ?