PHD finger protein 6 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''PHF6''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
This gene is a member of the
plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.
Mutations
Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with
Börjeson-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.
The ''PHF6'' gene in humans is also frequently mutated in human hematological malignancies, including
T-cell acute lymphoblastic Leukemia (T-ALL) and
Acute Myeloid Leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with haematopoiesis, normal blood cell production. Sympt ...
(AML) and at least two BFLS patients have developed leukemia or lymphoma. PHF6 has been shown to be important for the regulation of blood stem and progenitor cells
and loss of PHF6 protein synergizes with over-expression of the
TLX3 protein to cause lymphoid neoplasms.
References
Further reading
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External links
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Transcription factors
{{gene-X-stub