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PHF21A

PHF21A

The information on this page was automatically extracted from online scientific databases.

What is the official name of the PHF21A gene?

The official name of this gene is “PHD finger protein 21A.”

PHF21A is the gene's official symbol. The PHF21A gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PHF21A gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation.

How are changes in the PHF21A gene related to health conditions?

Genetics Home Reference provides information about Potocki-Shaffer syndrome, which is associated with changes in the PHF21A gene.
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PHF21A gene and its association with health conditions.
OMIM
Number
Title

Where is the PHF21A gene located?

Cytogenetic Location: 11p11.2

Molecular Location on chromosome 11: base pairs 45,929,318 to 46,121,433

The PHF21A gene is located on the short (p) arm of chromosome 11 at position 11.2.

The PHF21A gene is located on the short (p) arm of chromosome 11 at position 11.2.

More precisely, the PHF21A gene is located from base pair 45,929,318 to base pair 46,121,433 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PHF21A?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PHF21A gene or gene products?

  • BHC80
  • BM-006

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PHF21A?

chromatin ; corepressor ; gene ; histone ; in vitro ; Lys ; neuron ; repressor ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: November 17, 2014