endoglin isoform 2 precursor [Homo sapiens]

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Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families. [Eur J Med Genet. 2024]
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Tusseau M, Eyries M, Chatron N, Coulet F, Guichet A, Colin E, Demeer B, Maillard H, Thevenon J, Lavigne C, et al. Eur J Med Genet. 2024 Apr; 68:104919. Epub 2024 Feb 12.
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele. [Traffic. 2024]
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
Gariballa N, Badawi S, Ali BR. Traffic. 2024 Jan; 25(1):e12928.
A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family. [Eur Arch Otorhinolaryngol. 2024]
A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.
Li P, Gao C, Wei Y, Zhao X, Sun D, Lin L, Yang Y, Shao Q, Lv H. Eur Arch Otorhinolaryngol. 2024 Jan; 281(1):237-243. Epub 2023 Aug 21.

RefSeq genomic sequence
See the genomic reference sequence for the ENG gene (NG_009551.1).
RefSeq mRNA
See reference mRNA sequence for the ENG gene (NM_000118.4).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the ENG gene.

Ensembl [Ensembl]
Ensembl
endoglin (CD105) protein [Guide to Pharmacology]
endoglin (CD105) protein
Guide to Pharmacology
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OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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Protein