人 SLC45A2 (NM_016180) cDNA克隆

Accession: NM_016180
基因名称: SLC45A2
基因别名: 1A1; AIM1; MATP; OCA4; SHEP5
基因描述: Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1593 (查看编码区序列)
翻译后氨基酸长度: 530 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longer isoform (a).
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G108480 人 SLC45A2 (NM_016180) cDNA克隆 pDONR223 2ug质粒 点击询价

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]