Tissue expression
Cell line expression
Protein structure
PHF6
PHD finger protein 6BFLS, BORJ, CENP-31, KIAA1823, MGC14797
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. [provided by RefSeq, Jun 2010]
Top validated antibodies |
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Atlas Antibodies | HPA001023 | 1 references | Polyclonal |
WB
ICC
IHC
|
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Novus Biologicals | NB100-68262 | 5 references | Polyclonal |
WB
IP
IHC
ChIP |
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Invitrogen Antibodies | A301-451A | Polyclonal |
WB
IP
IHC
OA |
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Cusabio Biotech Co., Ltd | CSB-PA017917LA01HU | Polyclonal |
WB
EL
ICC
IP
IHC
|
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Biorbyt | orb1819395 | Polyclonal |
WB
EL
ICC
IHC
FC
|
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Supportive data in Antibodypedia
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Supportive data in Antibodypedia
Data presented on provider website
Data in Antibodypedia (inconclusive)
Recommended by provider