Literature summary for 3.4.21.109 extracted from

Ramsay, A.J.; Quesada, V.; Sanchez, M.; Garabaya, C.; Sarda, M.P.; Baiget, M.; Remacha, A.; Velasco, G.; Lopez-Otin, C.
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms (2009), Hum. Mol. Genet., 18, 3673-3683.

Search for more literature for 3.4.21.109

Protein Variants

Protein Variants	Comment	Organism
A118D	mutation causes an intra-molecular structural imbalance that impairs matriptase-2 activation	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
matriptase-2	-	Homo sapiens
TMPRSS6	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	two novel heterozygous mutations are described within the matriptase-2 gene of monozygotic twin girls exhibiting an iron-refractory iron deficiency anemia phenotype. A frameshift mutation (P686fs) caused by the insertion of the four nucleotides CCCC in exon 16 (2172_2173insCCCC) that is predicted to terminate translation before the catalytic serine. A di-nucleotide substitution c.467C to A and c.468C to T in exon 3 that causes the missense mutation A118D in the sea urchin sperm protein, enteropeptidase, agrin (SEA) domain of the extracellular stem region of matriptase-2	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)