EGF-containing fibulin-like extracellular matrix protein 1 isoform X1 - Protein

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Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

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.
Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma. [Ophthalmol Glaucoma. 2023]
Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.
Tejan-Kamara AZ, Boese EA, Pouw AE, Sears NC, Roos BR, Stone EM, Scheetz TE, Fingert JH. Ophthalmol Glaucoma. 2023 Nov-Dec; 6(6):668-670. Epub 2023 May 22.

RefSeq genomic sequence
See the genomic reference sequence for the EFEMP1 gene (NG_009098.1).
RefSeq mRNA
See reference mRNA sequence for the EFEMP1 gene (XM_054341033.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the EFEMP1 gene.

Microbe sample from Bacillus subtilis subsp. DNKAS
Microbe sample from Bacillus subtilis subsp. DNKAS

biosample

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Protein