PrimePCR™ ddPCR™ Expression Probe Assay: MLPH, Human

PrimePCR

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

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0024867; Exonic

 
Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5026738
Chromosome Location:   2:238462375-238462465question
Amplicon Length:   61

Gene Information

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3 which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants of this gene have been described but the full-length nature of some of these variants has not been determined. [provided by RefSeq Jul 2008]

Gene Symbol:   MLPH
Gene Name:   melanophilin
Aliases:   MGC2771, MGC59733, SLAC2-A
RefSeq:   NC_000002.11 NT_005120.16 NG_007286.1
Ensembl:   ENSG00000115648
Entrez:   79083
UniGene:   Hs.102406
Chromosome Mapping:   2q37.3

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