The actg1 gene encodes a cytoplasmic actin protein that polymerizes into microfilaments, forming part of the cytoskeleton. This protein is involved in maintaining cell structure, supporting cell motili...[+]

The actg1 gene encodes a cytoplasmic actin protein that polymerizes into microfilaments, forming part of the cytoskeleton. This protein is involved in maintaining cell structure, supporting cell motility, and facilitating intracellular transport and cytokinesis. It is required for proper neural crest cell migration and contributes to the structural integrity of various tissues including the brain, retina, otic vesicle, and pronephros during embryonic development. [-]

             Baraitser-Winter syndrome
             autosomal dominant nonsyndromic deafness 20
             Baraitser-Winter syndrome 2

          BARAITSER-WINTER SYNDROME 2; BRWS2

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