基因注释：SLC45A2

官方名称：solute carrier family 45 member 2

功能摘要：This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].

• HNRNPA2B1 综合评分: 0.350 · 证据 2 条

该基因暂无关联疾病记录