Homo sapiens cysteine rich with EGF like domains 1 (CRELD1), transcrip - Nucleotide

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. [Genet Med. 2024]
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, et al. Genet Med. 2024 Feb; 26(2):101023. Epub 2023 Nov 7.
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome. [Hum Genet. 2023]
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.
Pinnaro CT, Beck CB, Major HJ, Darbro BW. Hum Genet. 2023 Apr; 142(4):523-530. Epub 2023 Mar 16.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1. [Proc Natl Acad Sci U S A. 2022]
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1.
Simonetti B, Daly JL, Simón-Gracia L, Klein K, Weeratunga S, Antón-Plágaro C, Tobi A, Hodgson L, Lewis PA, Heesom KJ, et al. Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25):e2201980119. Epub 2022 Jun 13.

RefSeq alternative splicing
See 17 reference mRNA sequence splice variants for the CRELD1 gene.
RefSeq protein product
See the reference protein sequence for protein disulfide isomerase CRELD1 isoform 2 precursor (NP_056328.3).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide