RBCC Red Blood Cell Collection

LYSC_HUMAN

Source: hRBCD ; ID: IPI00019038
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: LYZ , LZM
Protein names and data: LYSC_HUMAN , Lysozyme C; 3.2.1.17 , 1,4-beta-N-acetylmuramidase C; Flags: Precursor Lenght: 148 a.a.
Mass: 16537 Da
fasta formatted sequence
Function: Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte- macrophage system and enhance the activity of immunoagents.
Catalytic activity: Hydrolysis of (1->4)-beta-linkages between N- acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.
Disease: ( OMIM: 105200 153450 ) Amyloidosis 8 (AMYL8) [MIM:105200]: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.

Genetic variants

74 - 74 I -> T (in AMYL8). VAR_004280
85 - 85 D -> H (in AMYL8). VAR_004281
88 - 88 T -> N (in dbSNP:rs1800973). VAR_012050 1800973

Database cross-references

UniProt: P61626
Ensembl: ENST00000261267
MIM: 105200
MIM: 153450
neXtProt: NX_P61626
Antibodypedia: P61626 (may not find the protein thus also not any antibody)
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