PREDICTED: Homo sapiens EGF containing fibulin extracellular matrix pr - Nucleotide

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Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow. [Exp Eye Res. 2024]
Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow.
Tan J, Cai S, Luo X, Li Q, Chen Y, Chen Z, Mao Y, Liu G, Yang M, Liu X. Exp Eye Res. 2024 Apr; 241:109859. Epub 2024 Mar 11.
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. [Am J Med Genet A. 2024]
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I, Lang SH, Rodier MJ, Bivona SA, Undiagnosed Diseases Network, Morales AA, Zuchner S, Bademci G, Tekin M. Am J Med Genet A. 2024 Jun; 194(6):e63556. Epub 2024 Feb 13.
Fibulin-3 is necessary to prevent cardiac rupture following myocardial infarction. [Sci Rep. 2023]
Fibulin-3 is necessary to prevent cardiac rupture following myocardial infarction.
Murtha LA, Hardy SA, Mabotuwana NS, Bigland MJ, Bailey T, Raguram K, Liu S, Ngo DT, Sverdlov AL, Tomin T, et al. Sci Rep. 2023 Sep 11; 13(1):14995. Epub 2023 Sep 11.

RefSeq alternative splicing
See 6 reference mRNA sequence splice variants for the EFEMP1 gene.
RefSeq protein product
See the reference protein sequence for EGF-containing fibulin-like extracellular matrix protein 1 isoform X1 (XP_054197007.1).

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Nucleotide