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PHF8

PHD finger protein (PHF8) is a jumonji domain containing protein that may, like other members of the jumonji family, have a role in histone demethylation. Truncating mutations of the PHF8 gene can lead to X-linked mental retardation (XLMR) associated with cleft lip / palate.
Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Spermatogonia, Spermatocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts with POLR1B, UBTF, SETD1A, HCFC1, E2F1 and ZNF711. Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (PubMed:32051553).

Molecular function

Activator, Chromatin regulator, Dioxygenase, Oxidoreductase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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