small nuclear ribonucleoprotein E isoform 1 [Homo sapiens]

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Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia. [Am J Med Genet A. 2023]
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Amudhavalli SM, Paolillo V, Lawson C, Patterson M, Kussmann J, Nopper AJ, Lypka M, Saunders C. Am J Med Genet A. 2023 May; 191(5):1425-1429. Epub 2023 Feb 22.
Additional causal SNRPE mutations in hereditary hypotrichosis simplex. [Br J Dermatol. 2021]
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Pan C, Humbatova A, Zheng L, Cesarato N, Grimm C, Chen F, Blaumeiser B, Catalán-Lambán A, Patiño-García A, Fischer U, et al. Br J Dermatol. 2021 Aug; 185(2):439-441. Epub 2021 May 25.
SNRPE is involved in cell proliferation and progression of high-grade prostate cancer through the regulation of androgen receptor expression. [Oncol Lett. 2012]
SNRPE is involved in cell proliferation and progression of high-grade prostate cancer through the regulation of androgen receptor expression.
Anchi T, Tamura K, Furihata M, Satake H, Sakoda H, Kawada C, Kamei M, Shimamoto T, Fukuhara H, Fukata S, et al. Oncol Lett. 2012 Feb; 3(2):264-268. Epub 2011 Dec 1.

RefSeq genomic sequence
See the genomic reference sequence for the SNRPE gene (NG_050954.2).
RefSeq mRNA
See reference mRNA sequence for the SNRPE gene (NM_003094.4).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the SNRPE gene.

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NP_003085 [Domain Mapping of Disease Mut...]
NP_003085
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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