E3 ubiquitin-protein ligase MSL2 isoform 1 [Homo sapiens]

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. [Am J Hum Genet. 2024]
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, et al. Am J Hum Genet. 2024 Jul 11; 111(7):1330-1351. Epub 2024 May 29.
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. [Eur J Hum Genet. 2024]
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.
Lu X, Ng K, Pinto E Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee EW, Rosenfeld JA, et al. Eur J Hum Genet. 2024 Jul; 32(7):879-883. Epub 2024 May 3.
Analysis of histone ubiquitylation by MSL1/MSL2 proteins in vitro. [Arch Biochem Biophys. 2019]
Analysis of histone ubiquitylation by MSL1/MSL2 proteins in vitro.
Krajewski WA, Vassiliev OL. Arch Biochem Biophys. 2019 May 15; 666:22-30. Epub 2019 Mar 29.

RefSeq mRNA
See reference mRNA sequence for the MSL2 gene (NM_018133.4).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the MSL2 gene.

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NP_060603 [Domain Mapping of Disease Mut...]
NP_060603
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
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reagent reviews
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

Geospiza fortis unplaced genomic scaffold scaffold635, whole genome shotgun sequ...
Geospiza fortis unplaced genomic scaffold scaffold635, whole genome shotgun sequence
gi|397558870|gnl|WGS:AKZB01|scaffol gb|JH740200.1|

Nucleotide
12d46d81-f8df-42cc-a25d-c30a757df1b3-dtol
12d46d81-f8df-42cc-a25d-c30a757df1b3-dtol

biosample

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Protein