Aliases for IGHMBP2 Gene
External Ids for IGHMBP2 Gene
Previous GeneCards Identifiers for IGHMBP2 Gene
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
GeneCards Summary for IGHMBP2 Gene
IGHMBP2 (Immunoglobulin Mu Binding Protein 2) is a Protein Coding gene. Diseases associated with IGHMBP2 include Charcot-Marie-Tooth Disease, Axonal, Type 2E and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is ZGRF1.
UniProtKB/Swiss-Prot for IGHMBP2 Gene
5 to 3 helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5-GGGCT-3 motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.