1bp3: Difference between revisions
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{{STRUCTURE_1bp3| PDB=1bp3 | SCENE= }} | {{STRUCTURE_1bp3| PDB=1bp3 | SCENE= }} | ||
===THE XRAY STRUCTURE OF A GROWTH HORMONE-PROLACTIN RECEPTOR COMPLEX=== | |||
{{ABSTRACT_PUBMED_7984244}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SOMA_HUMAN SOMA_HUMAN]] Defects in GH1 are a cause of growth hormone deficiency isolated type 1A (IGHD1A) [MIM:[http://omim.org/entry/262400 262400]]; also known as pituitary dwarfism I. IGHD1A is an autosomal recessive deficiency of GH which causes short stature. IGHD1A patients have an absence of GH with severe dwarfism and often develop anti-GH antibodies when given exogenous GH.<ref>PMID:8364549</ref> Defects in GH1 are a cause of growth hormone deficiency isolated type 1B (IGHD1B) [MIM:[http://omim.org/entry/612781 612781]]; also known as dwarfism of Sindh. IGHD1B is an autosomal recessive deficiency of GH which causes short stature. IGHD1B patients have low but detectable levels of GH. Dwarfism is less severe than in IGHD1A and patients usually respond well to exogenous GH. Defects in GH1 are the cause of Kowarski syndrome (KWKS) [MIM:[http://omim.org/entry/262650 262650]]; also known as pituitary dwarfism VI.<ref>PMID:8552145</ref><ref>PMID:9276733</ref><ref>PMID:17519310</ref> Defects in GH1 are a cause of growth hormone deficiency isolated type 2 (IGHD2) [MIM:[http://omim.org/entry/173100 173100]]. IGHD2 is an autosomal dominant deficiency of GH which causes short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SOMA_HUMAN SOMA_HUMAN]] Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues. [[http://www.uniprot.org/uniprot/PRLR_HUMAN PRLR_HUMAN]] This is a receptor for the anterior pituitary hormone prolactin (PRL). Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling.<ref>PMID:12580759</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:007984244</ref><ref group="xtra">PMID:012682073</ref><references group="xtra"/> | <ref group="xtra">PMID:007984244</ref><ref group="xtra">PMID:012682073</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Kossiakoff, A A.]] | [[Category: Kossiakoff, A A.]] | ||