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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: centromere protein 31; PHD finger protein 6; PHD-like zinc finger protein
基因别名: 2700007B13Rik; 4931428F02Rik; BFLS; BORJ; CENP-31; KIAA1823; mKIAA1823; PHF6
UniProt ID: (Human) Q8IWS0, (Mouse) Q9D4J7
Entrez Gene ID: (Human) 84295, (Rat) 100359714, (Mouse) 70998