MUC7

Chr 4AD

mucin 7, secreted

Also known as: MG2

NCBI Gene: 4589 ENSG00000171195 UniProt: Q8TAX7 OMIM: 158375

This gene encodes a small salivary mucin that facilitates bacterial clearance in the oral cavity and aids in mastication, speech, and swallowing through its antimicrobial properties against bacteria and fungi. Mutations are associated with protection against asthma and follow an autosomal dominant inheritance pattern. The gene shows low constraint to loss-of-function variation, indicating tolerance to such variants in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]

OMIM ResearchGenerating clinical summary…