基因名：
IGHMBP2
产品别名：
CATF1； CMT2S； HCSA； HMN6； SMARD1； SMUBP2； ZFAND7； IGHMBP2； immunoglobulin mu DNA binding protein 2； immunoglobulin mu DNA binding protein 2； DNA-binding protein SMUBP-2； ATP-dependent helicase IGHMBP2； GF-1； cardiac transcription factor 1； glial factor 1； immunoglobulin mu binding protein 2； zinc finger, AN1-type domain 7； 免疫球蛋白μ链结合蛋白2；
背景信息：
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.
