PHF6 rabbit pAb
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],
Product Specifications
Background
UniProt
Q8IWS0
Swiss Prot
Q8IWS0
Reactivity
Human; Mouse
Immunogen
Synthesized peptide derived from human protein . at AA range: 290-370
Target
PHF6
Clonality
Polyclonal
Source
Rabbit
Applications
WB; ELISA
Concentration
1 mg/ml
Dilution
WB 1:500-2000 ELISA 1:5000-20000
Buffer
-20°C/1 year
Molecular Weight
40kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
40kD
Fragment
IgG
Subcellular Location
Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore . Nuclear, it particularly localizes to the nucleolus.
Gene ID (Human)
84295
Available Sizes
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