LYZ gene

The LYZ gene (LYZ stands for lysozyme) is a protein-coding gene located on chromosome 12q15. The LYZ gene encodes human lysozyme, whose natural substrate is the peptidoglycan of the bacterial cell wall (cleavage of the beta[1-4] glycosidic bonds between N-acetylmuramic acid and N-acetylglucosamine).

Lysozyme is one of the antimicrobial agents found in human milk and is also present in spleen, lung, kidney, white blood cells, plasma, saliva and tears. The protein has an antibacterial effect against a number of bacterial species.

Missense mutations in this gene have been demonstrated in hereditary ALys amyloidosis (see below hereditary amyloidoses).

1. Anker S et al. (2022) Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant. Amyloid 29:245-254.
2. Benyamine A et al. (2017) Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review. Clin Rheumatol 36: 2623-2628.
3. Röcken C et al. (2006) ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene. Hum Mutat 27:119-120