人 SLC22A12 (NM_001276326) cDNA克隆

Accession: NM_001276326
基因名称: SLC22A12
基因别名: RST; OAT4L; URAT1
基因描述: Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1560 (查看编码区序列)
翻译后氨基酸长度: 519 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
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G117465 人 SLC22A12 (NM_001276326) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]