KAT8 regulatory NSL complex subunit 1 isoform 1 [Homo sapiens]

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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. [Eur J Hum Genet. 2024]
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, et al. Eur J Hum Genet. 2024 Mar; 32(3):324-332. Epub 2024 Jan 29.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. [J Med Genet. 2022]
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, et al. J Med Genet. 2022 Feb; 59(2):189-195. Epub 2020 Dec 24.
Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition. [Gynecol Oncol. 2021]
Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition.
Fejzo MS, Chen HW, Anderson L, McDermott MS, Karlan B, Konecny GE, Slamon DJ. Gynecol Oncol. 2021 Feb; 160(2):539-546. Epub 2020 Nov 20.

RefSeq genomic sequence
See the genomic reference sequence for the KANSL1 gene (NG_032784.1).
RefSeq mRNA
See reference mRNA sequence for the KANSL1 gene (NM_001193466.2).
RefSeq protein isoforms
See 44 reference sequence protein isoforms for the KANSL1 gene.

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NP_001180395 [Domain Mapping of Disease Mut...]
NP_001180395
Domain Mapping of Disease Mutations
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