Английская Википедия:ABHD11

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Версия от 22:55, 26 декабря 2023; EducationBot (обсуждение | вклад) (Новая страница: «{{Английская Википедия/Панель перехода}} {{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Abhydrolase domain-containing protein 11''' also known as '''Williams-Beuren syndrome chromosomal region 21 protein''' (WBSCR21) is an enzyme that in humans is encoded by the ''ABHD11'' gene.<ref name="pmid12073013">{{cite journal | vauthors = Merla G, Ucla C, Guipponi M, Reymond A | title...»)
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Шаблон:Short description Шаблон:Infobox gene Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene.[1][2]

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[2]

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