The alb gene encodes a secreted protein that functions as an enzyme in the melanin synthesis pathway within melanophores. it is involved in pigmentation, and its expression leads to the production of w...[+]

The alb gene encodes a secreted protein that functions as an enzyme in the melanin synthesis pathway within melanophores. it is involved in pigmentation, and its expression leads to the production of white pigment, acting antagonistically to the melanophore-stimulating hormone pathway. loss-of-function mutations or morpholino knockdowns result in hypopigmentation and a reduction in the number of melanophores, while overexpression increases their number. alb mrna is expressed in the skin and melanophores. the protein is localized to the extracellular space. [-]

          ANALBUMINEMIA; ANALBA
          HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD