Description
Product Characteristics:
IGHMBP2 is a 993 amino acid nuclear and cytoplasmic protein that is ubiquitously expressed. Belonging to the DNA2/NAM7 helicase family, IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. IGHMBP2 also acts as a transcriptional regulator and is necessary for transcriptional activation of the flounder liver-type antifreeze protein gene. IGHMBP2 exists as a homooligomer and is part of the cytosolic ribonucleoprotein complex. Mutations in the gene encoding IGHMBP2 are suggested to lead to distal hereditary motor neuronopathy type 6 (HMN6), also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). HMN6 is characterized by weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs and severe respiratory distress.
Subcellular location: Cytoplasm, Nucleus
Synonyms: AEP, Antreeze enhancer binding protein, ATP-dependent helicase IGHMBP2, Cardiac transcription factor 1, Cardiac transcription factor1, CATF 1, CATF1, DNA-binding protein SMUBP-2, GF-1, Glial factor 1, HCSA, HMN 6, HMN6, IGHMBP 2, Ighmbp2, Immunoglobulin mu binding protein 2, Immunoglobulin mu binding protein2, Immunoglobulin mu-binding protein 2, Immunoglobulin S mu binding protein 2, Immunoglobulin S mu binding protein2, RIPE3 b1, RIPE3b 1, RIPE3b1, SMARD 1, SMARD1, SMBP2_HUMAN, SMUBP 2.
Target Information: 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]