- accession:NM_001142604
- 基因别名:PPT1
- 基因描述:Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:612
- 翻译后氨基酸长度:203
- TranscriptVariant:This variant (2) lacks an in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
- 基因简介:The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
- 规格:10ul 质粒
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