Variants
Sign InSign Up

CBFB Gene

core-binding factor subunit beta

ALIAS SYMBOLS

  • PEBP2B

Your Results

Sign In

Description

The CBFB gene provides instructions for making a protein called core binding factor beta (CBFβ), which is one piece of a protein complex known as core binding factor (CBF). CBFβ attaches (binds) to one of three related RUNX proteins (RUNX1, RUNX2, or RUNX3) to form different versions of CBF. These protein complexes bind to specific regions of DNA and help turn on (activate) certain genes.

The presence of CBFβ helps the complex bind to DNA and protects the RUNX protein from being broken down. The function of CBF depends on which RUNX protein it includes. Once bound to DNA, the RUNX1 protein controls the activity of genes involved in the development of blood cells (hematopoiesis). The RUNX2 protein regulates genes important for bone cell development and formation of the skeleton. The RUNX3 protein primarily affects genes involved in the development of nerve cells.

CHROMOSOME

16


LOCATION

q22.1


LOCUS TYPE

gene with protein product

VARIANTS

6

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:1539

  • NCBI

    865

  • OMIM

    121360

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.