NFIB / NF1B2

The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

Macrocephaly, acquired, with impaired intellectual development

MACID

An autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild intellectual disability. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the CTF/NF-I family.

• Nucleus

Nuclear factor 1 B-type, NF1-B, Nuclear factor 1/B, CCAAT-box-binding transcription factor, Nuclear factor I/B, TGGCA-binding protein, CTF, NF-I/B, NFI-B, NFIB

• entrezGene:4781
• omim:600728
• swissprot:O00712

Proteins

Immuno-oncology

47442Da