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].
Shababi, Feng, Villalon, Sibigtroth, Osman, Miller, Williams-Simon, Lombardi, Sass, Atkinson, Garcia, Ko, Lorson: "Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent." in: Molecular therapy : the journal of the American Society of Gene Therapy, Vol. 24, Issue 5, pp. 855-66, (2016) (PubMed).
Aliases for IGHMBP2 抗体
immunoglobulin mu binding protein 2 (IGHMBP2) 抗体 immunoglobulin mu binding protein 2 (Ighmbp2) 抗体 immunoglobulin mu binding protein 2 (ighmbp2) 抗体 AEP 抗体 CATF1 抗体 Catf1 抗体 HCSA 抗体 HMN6 抗体 nmd 抗体 NV12364 抗体 RIP-1 抗体 RIP1 抗体 RIPE3b1 抗体 sma 抗体 SMARD1 抗体 Smbp-2 抗体 Smbp2 抗体 SMUBP2 抗体 Smubp2 抗体 ZFAND7 抗体