Mar 30, 2025 · MMEL1 (Membrane Metalloendopeptidase Like 1) is a Protein Coding gene. Diseases associated with MMEL1 include Primary Biliary Cholangitis and Tricuspid Valve Disease. Among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism.

Membrane metallo-endopeptidase-like 1 is a protein that in humans is encoded by the MMEL1 gene. [5] The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family.

Feb 8, 2025 · This study identifies MMEL1 and CTLA4 as RA susceptibility genes, in Han Chinese popilation. A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 in multiple sclerosis susceptibility.

Nov 3, 2024 · Title: A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction.

Feb 8, 2025 · Predicted to enable metalloendopeptidase activity and zinc ion binding activity. Predicted to be involved in protein processing. Located in Golgi apparatus and endoplasmic reticulum. Orthologous to human MMEL1 (membrane metalloendopeptidase like 1). [provided by Alliance of Genome Resources, Feb 2025]

Chromosome 1: 2,522,078-2,564,481 reverse strand. This gene has 10 transcripts (splice variants), 6 paralogues and is associated with 1 phenotype. Gene/transcipt that contains an open reading frame (ORF). Protein coding.

Ikeda et al. (1999) cloned mouse Mmel1, which they called Sep. The predicted full-length 765-amino acid type II integral membrane protein has a short N-terminal cytoplasmic tail, a transmembrane helix, and a large C-terminal extracellular domain.

View mouse Mmel1 Chr4:154954042-154979985 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression

Sep 14, 2016 · The protein encoded by the MMEL1 gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and …

A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 (MMEL1; odds ratio=1.16, P=3.54 × 10⁻⁶) in MS susceptibility.