Anti-PHF6 Antibody Picoband®

SKU: A03065-1

Size: 100 μg

Storage: At -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freezing and thawing.

Form: Lyophilized

Reactivity: Human,Monkey,Mouse,Rat

Applications: WB,IHC,ICC,IF,Flow Cytometry,ELISA

Application Details: Western blot, 0.25-0.5 μg/ml, Human, Monkey, Mouse, Rat
Immunohistochemistry (Paraffin-embedded Section), 2-5 μg/ml, Human, Mouse, Rat
Immunocytochemistry/Immunofluorescence, 5 μg/ml, Human
Flow Cytometry (Fixed), 1-3 μg/1x10⁶ cells, Human
ELISA, 0.1-0.5 μg/ml, -

Gene Name: PHF6

Specificity:

Background: PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene. 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: E.coli-derived human PHF6 recombinant protein (Position: Q37-D309). Human PHF6 shares 98.2% amino acid (aa) sequence identity with mouse PHF6.

Clonality: Polyclonal

Contents: Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.

Purification: Immunogen affinity purified.

Reconstitution: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Reference: 1. Ahmed, R., Sarwar, S., Hu, J., Cardin, V., Qiu, L. R., Zapata, G., Vandeleur, L., Yan, K., Lerch, J. P., Corbett, M. A., Gecz, J., Picketts, D. J. Transgenic mice with an R342X mutation in Phf6 display clinical features of Borjeson-Forssman-Lehmann syndrome. Hum. Molec. Genet. 30: 575-594, 2021. 2. Borjeson, M., Forssman, H., Lehmann, O. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med. Scand. 171: 13-21, 1962. 3. Crawford, J., Lower, K. M., Hennekam, R. C. M., Van Esch, H., Megarbane, A., Lynch, S. A., Turner, G., Gecz, J. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J. Med. Genet. 43: 238-243, 2006.

Uniprot ID: Q8IWS0

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity: No cross reactivity with other proteins.

Isotype: IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 41 kDa

Calculated Molecular Weight: 52588 MW

Gene ID: 84295

Protein Name: PHD finger protein 6

Gene Full Name: PHD finger protein 6

Synonyms: BORJ; KIAA1823; PHD finger protein 6; PHD like zinc finger protein; PHF6