1so8: Difference between revisions
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{{STRUCTURE_1so8| PDB=1so8 | SCENE= }} | {{STRUCTURE_1so8| PDB=1so8 | SCENE= }} | ||
===Abeta-bound human ABAD structure [also known as 3-hydroxyacyl-CoA dehydrogenase type II (Type II HADH), Endoplasmic reticulum-associated amyloid beta-peptide binding protein (ERAB)]=== | |||
{{ABSTRACT_PUBMED_15087549}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/HCD2_HUMAN HCD2_HUMAN]] Defects in HSD17B10 are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:[http://omim.org/entry/300438 300438]]. MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills. Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10) [MIM:[http://omim.org/entry/300220 300220]]. MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior.<ref>PMID:17236142</ref> A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:[http://omim.org/entry/300705 300705]]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.<ref>PMID:18252223</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/HCD2_HUMAN HCD2_HUMAN]] Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD).<ref>PMID:18984158</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015087549</ref><references group="xtra"/> | <ref group="xtra">PMID:015087549</ref><references group="xtra"/><references/> | ||
[[Category: 3-hydroxyacyl-CoA dehydrogenase]] | [[Category: 3-hydroxyacyl-CoA dehydrogenase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
