Abstract
Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Amino Acid Sequence
-
Antimicrobial Cationic Peptides / chemistry
-
Antimicrobial Cationic Peptides / genetics*
-
Base Sequence
-
Child
-
DNA Mutational Analysis
-
Female
-
Hemochromatosis / genetics*
-
Hepcidins
-
Humans
-
Male
-
Molecular Sequence Data
-
Mutation / genetics*
-
Pedigree
-
Polymorphism, Single-Stranded Conformational
Substances
-
Antimicrobial Cationic Peptides
-
HAMP protein, human
-
Hepcidins
Associated data
-
OMIM/235200
-
OMIM/602390
-
OMIM/604250
-
OMIM/606069
-
OMIM/606464