3p331

3p331 is a gene located on the long arm of chromosome 3, specifically at position 33.1. It is a member of the p300/CREB-binding protein (CBP) family of proteins, which are involved in various cellular processes, including transcription regulation, DNA repair, and cell cycle control. The 3p331 gene encodes a protein that acts as a transcriptional coactivator, enhancing the activity of certain transcription factors by facilitating the recruitment of the general transcription machinery to the promoter region of target genes.

Mutations in the 3p331 gene have been associated with several genetic disorders, including:

1. Rubinstein-Taybi syndrome (RTS), a rare genetic disorder characterized by intellectual disability, distinctive facial features, and developmental delays.

2. Smith-Magenis syndrome (SMS), a rare genetic disorder caused by mutations in the DHCR7 gene, which is closely linked to 3p331. SMS is characterized by intellectual disability, distinctive facial features, and developmental delays.

The 3p331 gene is also a candidate gene for other genetic disorders, and ongoing research aims to elucidate its role in various cellular processes and its potential involvement in other genetic disorders.