PrimePCR™ Probe Assay: SPG20, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0051749
Assay Design:   exonic
Chromosome Location:   13:36909328-36909462question
Amplicon Length:   105
Splice Variants Targeted:   ENST00000438666 ENST00000494062 ENST00000355182 ENST00000451493

Gene Information

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants encoding the same protein have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq Nov 2008]

Gene Symbol:   SPG20
Gene Name:   spastic paraplegia 20 (Troyer syndrome)
Aliases:   KIAA0610, SPARTIN, TAHCCP1
RefSeq:   NC_000013.10 NG_011559.1 NT_024524.14
Ensembl:   ENSG00000133104
Entrez:   23111
Chromosome Mapping:   13q13.3

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