Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Invitrogen
This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated.
Immunogen sequence: MSSSVEQKKG PTRQRKCGFC KSNRDKECGQ LLISENQKVA AHHKCMLFSS ALVSSHSDNE SLGGFSIEDV QKEIKRGTKL MCSLCHCPGA TIGCDVKTCH RTYHYHCALH DK
Highest antigen sequence identity to the following orthologs: Mouse - 98%, Rat - 98%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: centromere protein 31; PHD finger protein 6; PHD-like zinc finger protein
Gene Aliases: BFLS; BORJ; CENP-31; KIAA1823; PHF6
UniProt ID: (Human) Q8IWS0
Entrez Gene ID: (Human) 84295
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