PHF6 rabbit pAb
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PHF6 rabbit pAb
Background :
This gene is a member of the plant homeodomain (PHD) -like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]Description :
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010],UniProt :
Q8IWS0Swiss Prot :
Q8IWS0Reactivity :
Human; MouseImmunogen :
Synthesized peptide derived from human protein . at AA range: 290-370Clonality :
PolyclonalSource :
RabbitApplications :
WB; ELISAConcentration :
1 mg/mlDilution :
WB 1:500-2000 ELISA 1:5000-20000Molecular Weight :
40kDStorage Conditions :
-20°C/1 yearObserved Molecular Weight :
40kDFragment :
IgGSubcellular Location :
Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore . Nuclear, it particularly localizes to the nucleolus.Gene ID (Human) :
84295

