人 SLC12A6 (NM_001042496) cDNA克隆

Accession: NM_001042496
基因名称: SLC12A6
基因别名: KCC3; ACCPN; KCC3A; KCC3B
基因描述: Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 6 (SLC12A6), transcript variant 5, mRNA.
种属: Human
CDS区长度: 3426 (查看编码区序列)
翻译后氨基酸长度: 1141 (查看氨基酸序列)
Transcript Variant: This variant (5) has an additional exon in its 5' UTR and uses an alternate in-frame splice site in the first protein coding exon, compared to variant 1. The encoded protein (isoform d) uses a downstream start codon, compared to isoform a.
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G122516 人 SLC12A6 (NM_001042496) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]