Gene: SUPT3H

Alternate names for this Gene: SPT3|SPT3L

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: SPT3 homolog, SAGA and STAGA complex component

Type of Gene: protein-coding

Gene: RUNX2

Alternate names for this Gene: AML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aA

Gene Summary: This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: RUNX family transcription factor 2

Type of Gene: protein-coding