PHF6 Antilichaam - N-terminaal gebied : HRP (ARP51237 T100-HRP)

PHD finger protein 6

BFLS, BORJ, CENP-31

84295

Q8IWS0

NP_115834

Human, Mouse, Rat, Cow, Dog, Guinea Pig, Horse, Pig, Rabbit

The immunogen is a synthetic peptide directed towards the N terminal region of human PHF6

PHF6 is a member of the plant homeodomain (PHD) -like finger (PHF) family. PHF6 is 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 its 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.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 transcriptional splice variants, encoding different isoforms, have been characterized.

UBC; SUMO1; NEDD8; BMI1; HECW2; CAND1; CUL3; HDGF

HRP: Horseradish Peroxidase

Polyclonal Antibody

WB

0.5 mg/ml

Cow: 93%; Dog: 100%; Guinea Pig: 92%; Horse: 93%; Human: 100%; Mouse: 93%; Pig: 100%; Rabbit: 93%; Rat: 100%

Liquid. Purified antibody is supplied in high phosphate PBS, 100 mm phosphate, 150 mM NaCl, pH 7.6.

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

41kDa

Vallee, D., (2004) J. Med. Genet. 41 (10), 778-783

Wet Ice

365

PHF6

PHF6

Rabbit

PHD finger protein 6

NM_032458

VGQNHSEDGAPALLTTAPPPGLQPGAGGTPGGPGGGGAPPRYATLEHPFH