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Protein-coding gene in humans
Endothelial cell-selective adhesion molecule is a protein that in humans is encoded by the ESAM gene .[ 5] [ 6] [ 7] A mutation in the ESAM gene is known to cause fetal intracranial hemorrhaging.[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000149564 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001946 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Hirata Ki, Ishida T, Penta K, Rezaee M, Yang E, Wohlgemuth J, Quertermous T (May 2001). "Cloning of an immunoglobulin family adhesion molecule selectively expressed by endothelial cells" . J Biol Chem . 276 (19): 16223–16231. doi :10.1074/jbc.M100630200 . PMID 11279107 .
^ Sim DL, Yeo WM, Chow VT (Mar 2002). "The novel human HUEL (C4orf1) protein shares homology with the DNA-binding domain of the XPA DNA repair protein and displays nuclear translocation in a cell cycle-dependent manner". Int J Biochem Cell Biol . 34 (5): 487–504. doi :10.1016/S1357-2725(01)00156-X . PMID 11906820 .
^ "Entrez Gene: ESAM endothelial cell adhesion molecule" .
^ "Entry - #620371 - NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS - OMIM" . omim.org . Retrieved 2024-11-19 .
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