IGHMBP2 explained
DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.[1] [2]
Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).[3]
Further reading
- Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, Fujioka T, Nihei H, Nakamura Y. Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy. Journal of Human Genetics. 50. 1. 30–5. 2004. 15599641. 10.1007/s10038-004-0214-8. free.
- Tachi N, Kikuchi S, Kozuka N, Nogami A. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. Pediatric Neurology. 32. 4. 288–90. April 2005. 15797190. 10.1016/j.pediatrneurol.2004.11.003.
- Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Human Mutation. 23. 5. 525–6. May 2004. 15108294. 10.1002/humu.9241. 39222622. free.
- Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. Human Genetics. 115. 4. 319–26. September 2004. 15290238. 10.1007/s00439-004-1156-0. 24478377.
- Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM. IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk. Breast Cancer Research and Treatment. 99. 1. 1–7. September 2006. 16752224. 10.1007/s10549-006-9174-3. 9625880.
Notes and References
- Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T. The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. The Journal of Biological Chemistry. 268. 23. 17463–70. August 1993. 10.1016/S0021-9258(19)85357-7 . 8349627. free .
- Web site: Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2.
- Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature Genetics. 29. 1. 75–7. September 2001. 11528396. 10.1038/ng703. 7028396.
