Article
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
American journal of medical genetics. Part A - 1 May 2014
Naiki Misako, Ochi Nobuhiko, Kato Yusuke S, Purevsuren Jamiyan, Yamada Kenichiro, Kimura Reiko, Fukushi Daisuke, Hara Shinya, Yamada Yasukazu, Kumagai Toshiyuki, Yamaguchi Seiji, Wakamatsu Nobuaki
Abstract excerpt
Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four α- and four β-subunits that catalyzes the final three steps of mitochondrial β-oxidation of long chain fatty acids. HADHA and HADHB encode the α-subunit and the β-subunit of MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated with hypoparathyroidism and peripheral polyneuropathy. Here, we...
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