2jyt: Difference between revisions
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{{STRUCTURE_2jyt| PDB=2jyt | SCENE= }} | {{STRUCTURE_2jyt| PDB=2jyt | SCENE= }} | ||
===Human Granulin C, isomer 1=== | |||
{{ABSTRACT_PUBMED_18359860}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GRN_HUMAN GRN_HUMAN]] Defects in GRN are the cause of ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:[http://omim.org/entry/607485 607485]]; also known as tau-negative frontotemporal dementia linked to chromosome 17. Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease.<ref>PMID:16862116</ref><ref>PMID:16983685</ref><ref>PMID:18183624</ref> Defects in GRN are the cause of neuronal ceroid lipofuscinosis type 11 (CLN11) [MIM:[http://omim.org/entry/614706 614706]]. A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.<ref>PMID:22608501</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GRN_HUMAN GRN_HUMAN]] Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling. Granulin-4 promotes proliferation of the epithelial cell line A431 in culture while granulin-3 acts as an antagonist to granulin-4, inhibiting the growth. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018359860</ref><references group="xtra"/> | <ref group="xtra">PMID:018359860</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Chen, Z.]] | [[Category: Chen, Z.]] | ||