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人PNPLA1(NM_173676)ORF克隆
人PNPLA1(NM_173676)ORF克隆
会员等级价V
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  • 商品货号:F123573
  • accession:NM_173676
  • 基因别名:PNPLA1
  • 基因描述:Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 1, mRNA.
  • 载体: 现货载体
  • CDS区长度:1314
  • 翻译后氨基酸长度:437
  • TranscriptVariant:This variant (1) encodes the shortest isoform (1), which lacks the N-terminal catalytic patatin domain, and thought unlikely to function as a lipolytic enzyme (PMID:16799181).
  • 基因简介:The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
  • 载体信息:自有图片地址
  • 规格:10ul 质粒
CDS区参考序列: 点击查看序列
翻译后氨基酸参数序列: 点击查看序列