1fmi: Difference between revisions
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{{STRUCTURE_1fmi| PDB=1fmi | SCENE= }} | {{STRUCTURE_1fmi| PDB=1fmi | SCENE= }} | ||
===CRYSTAL STRUCTURE OF HUMAN CLASS I ALPHA1,2-MANNOSIDASE=== | |||
{{ABSTRACT_PUBMED_10995765}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/MA1B1_HUMAN MA1B1_HUMAN]] Defects in MAN1B1 are the cause of mental retardation autosomal recessive type 15 (MRT15) [MIM:[http://omim.org/entry/614202 614202]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:21763484</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/MA1B1_HUMAN MA1B1_HUMAN]] Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).<ref>PMID:12090241</ref><ref>PMID:18003979</ref> | |||
==About this Structure== | ==About this Structure== | ||
| Line 14: | Line 16: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010995765</ref><references group="xtra"/> | <ref group="xtra">PMID:010995765</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Mannosyl-oligosaccharide 1,2-alpha-mannosidase]] | [[Category: Mannosyl-oligosaccharide 1,2-alpha-mannosidase]] | ||
