Disease-gene associations mined from literature

Literature associating ALB and nemaline myopathy 3

ALB [ENSP00000295897]

Serum albumin; Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc . Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli . Does not prevent iron uptake by the bacterial siderophore aerobactin . ECO:0000269|PubMed:19021548, ECO:0000269|PubMed:6234017,

Synonyms:  ALB,  A0A087WWT3,  A0A0C4DGB6,  B7WNR0,  C9JKR2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM