基因注释：DSG4

官方名称：desmoglein 4

功能摘要：This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016].

• PTBP1 综合评分: 0.300 · 证据 2 条

该基因暂无关联疾病记录