Phf6 [Search on AGR]
Rattus norvegicus Predicted to enable several functions, including histone deacetylase binding activity; phosphoprotein binding activity; and scaffold protein binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within blastocyst hatching. Predicted to be located in nucleolus and nucleoplasm. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Borjeson-Forssman-Lehmann syndrome; acute myeloid leukemia; and congestive heart failure. Orthologous to human PHF6 (PHD finger protein 6); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; thioacetamide; (-)-demecolcine (ortholog).
Phf6 [Search on AGR]
Homo sapiens 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]
Fgf13 [Search on AGR]
Homo sapiens The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]