2b3u: Difference between revisions
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{{STRUCTURE_2b3u| PDB=2b3u | SCENE= }} | {{STRUCTURE_2b3u| PDB=2b3u | SCENE= }} | ||
===Human Spermine spermidine acetyltransferase K26R mutant=== | |||
{{ABSTRACT_PUBMED_16455797}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SAT1_HUMAN SAT1_HUMAN]] Defects in SAT1 may be a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:[http://omim.org/entry/308800 308800]]. A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.<ref>PMID:9341865</ref><ref>PMID:12215835</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SAT1_HUMAN SAT1_HUMAN]] Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016455797</ref><references group="xtra"/> | <ref group="xtra">PMID:016455797</ref><references group="xtra"/><references/> | ||
[[Category: Diamine N-acetyltransferase]] | [[Category: Diamine N-acetyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||