Английская Википедия:CEP85L

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Версия от 10:58, 13 февраля 2024; EducationBot (обсуждение | вклад) (Новая страница: «{{Английская Википедия/Панель перехода}} {{Infobox protein | Name = Centrosomal Protein 85kDa-Like | caption = | image = | width = 150 px | HGNCid = | Symbol = CEP85L | AltSymbols = | EntrezGene = | OMIM = 618865 | HomoloGene = | RefSeq = | UniProt = | PDB = | EC_number = | Chromosome = 6 | Arm = q | Band = 22.31 | LocusSupplementaryData = }} '''CEP85L''', for "Centrosomal Protein 85kDa-Like"<ref>{{cite web |last1=...»)
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Шаблон:Infobox protein CEP85L, for "Centrosomal Protein 85kDa-Like"[1] is a gene which encodes a protein that has been identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. It has been shown to be related to the QT interval in GWAS studies.[2]

Pathology

Mutations of the CEP85L gene were associated with posterior predominant lissencephaly in a 2020 study,[3] added under #618873 in the OMIM catalogue, where it received the name of lissencephaly 10.

See also

  • Centrosome - the product of the gene localizes in the centrosome

Sources

Шаблон:Reflist[4]