Aliases for MMEL1 Gene
External Ids for MMEL1 Gene
Previous HGNC Symbols for MMEL1 Gene
Previous GeneCards Identifiers for MMEL1 Gene
The protein encoded by this 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 homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
GeneCards Summary for MMEL1 Gene
MMEL1 (Membrane Metalloendopeptidase Like 1) is a Protein Coding gene. Diseases associated with MMEL1 include Primary Biliary Cholangitis and Schwartz-Jampel Syndrome, Type 1. Among its related pathways are A-beta Pathways: Plaque Formation and APP Metabolism and A-beta Pathways: Uptake and Degradation. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is MME.
UniProtKB/Swiss-Prot for MMEL1 Gene
Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity).