Description
Product Name: | PHF6 Polyclonal Antibody |
Product Code: | CAB21684 |
Reactivity: | Human |
Applications: | Western blotting |
Host Species: | Rabbit |
Purification Method: | Affinity purification |
Isotype: | IgG |
Reactivity: | Human |
Tested Applications: | WB, ELISA |
Key Applications: | Western blotting |
Recommended Dilution: | WB 1:500-1:2000 |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles.Buffer: PBS with 0.01% thimerosal, 50% glycerol, pH7.3. |
Cellular Location: | Chromosome, Nucleus, centromere, kinetochore, nucleolus |
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 cognitive disability, 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.
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-112 of human PHF6 (NP_115834.1). |
Sequence: | MSSSV EQKKG PTRQR KCGFC KSNRD KECGQ LLISE NQKVA AHHKC MLFSS ALVSS HSDNE SLGGF SIEDV QKEIK RGTKL MCSLC HCPGA TIGCD VKTCH RTYHY HCALH DK |
Synonyms: | BFLS, BORJ, CENP-31 |
Calculated MW: | 41kDa |
Observed MW: | Refer to figures |