LYZ Chromosome 12
Lysozyme
Upload your DNA to see your personal genotypes for variants in LYZ.
What This Gene Does
This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages 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 antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Lysozymes, c-type
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000090382
Associated Conditions (5)
Inborn genetic diseases
Amyloidosis
hereditary systemic 5
Familial visceral amyloidosis
Ostertag type
Key Variants
RS1363507110
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyloidosis, hereditary systemic 5
Health Risk
RS367682582
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Amyloidosis
Health Risk
RS531119114
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyloidosis, hereditary systemic 5
Health Risk
RS764263034
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Inborn genetic diseases
Health Risk
RS776898103
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Inborn genetic diseases
Health Risk
RS121913547
Pathogenic
Amyloidosis, hereditary systemic 5, Amyloidosis
Health Risk
RS121913549
Pathogenic
Amyloidosis, hereditary systemic 5, Amyloidosis
Health Risk
RS387906536
Pathogenic
Familial visceral amyloidosis, Ostertag type, Familial visceral amyloidosis
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1363507110 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyloidosis, hereditary systemic 5 |
| RS367682582 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Amyloidosis |
| RS531119114 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyloidosis, hereditary systemic 5 |
| RS764263034 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Inborn genetic diseases |
| RS776898103 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Inborn genetic diseases |
| RS121913547 | Health Risk | Pathogenic | Amyloidosis, hereditary systemic 5, Amyloidosis |
| RS121913549 | Health Risk | Pathogenic | Amyloidosis, hereditary systemic 5, Amyloidosis |
| RS387906536 | Health Risk | Pathogenic | Familial visceral amyloidosis, Ostertag type, Familial visceral amyloidosis |