UniProt Protein Function: | ZBTB24: May be involved in BMP2-induced transcription. Defects in ZBTB24 are the cause of immunodeficiency- centromeric instability-facial anomalies syndrome type 2 (ICF2). A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. Belongs to the krueppel C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:C2H2-type zinc finger protein Chromosomal Location of Human Ortholog: 6q21 Molecular Function:protein binding Disease: Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2 |
NCBI Summary: | This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011] |
UniProt Code: | O43167 |
NCBI GenInfo Identifier: | 66774228 |
NCBI Gene ID: | 9841 |
NCBI Accession: | O43167.2 |
UniProt Secondary Accession: | O43167,Q17RC6, Q5TED5, Q8N455, |
UniProt Related Accession: | O43167 |
Molecular Weight: | 37,620 Da |
NCBI Full Name: | Zinc finger and BTB domain-containing protein 24 |
NCBI Synonym Full Names: | zinc finger and BTB domain containing 24 |
NCBI Official Symbol: | ZBTB24 |
NCBI Official Synonym Symbols: | BIF1; ICF2; PATZ2; ZNF450 |
NCBI Protein Information: | zinc finger and BTB domain-containing protein 24 |
UniProt Protein Name: | Zinc finger and BTB domain-containing protein 24 |
UniProt Synonym Protein Names: | Zinc finger protein 450 |
Protein Family: | Zinc finger and BTB domain-containing protein |
UniProt Gene Name: | ZBTB24 |
UniProt Entry Name: | ZBT24_HUMAN |