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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed January 2013

What is the official name of the IGHMBP2 gene?

The official name of this gene is “immunoglobulin mu binding protein 2.”

IGHMBP2 is the gene's official symbol. The IGHMBP2 gene is also known by other names, listed below.

What is the normal function of the IGHMBP2 gene?

The IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin µ-binding protein 2 (IGHMBP2). This enzyme functions as a helicase, which means that it attaches to particular regions of DNA and temporarily unwinds the two spiral strands of these molecules. When a cell prepares to divide to form two cells, the chromosomes are duplicated (replicated) so that each new cell will get a complete set of chromosomes. The replication process involves unwinding the DNA so that it can be copied. This mechanism is also involved in the production of RNA, a chemical cousin of DNA. Additionally, the IGHMBP2 protein is thought to be involved in the production of proteins from RNA through a process called translation. The IGHMBP2 protein is produced in cells throughout the body.

Does the IGHMBP2 gene share characteristics with other genes?

The IGHMBP2 gene belongs to a family of genes called IG (immunoglobulins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the IGHMBP2 gene related to health conditions?

spinal muscular atrophy with respiratory distress type 1 - caused by mutations in the IGHMBP2 gene

More than 60 mutations in the IGHMBP2 gene have been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Most mutations that cause this condition change single protein building blocks (amino acids) in the IGHMBP2 protein and disrupt the protein's ability to unwind DNA and RNA. The loss of helicase function impedes DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Altered IGHMBP2 proteins cause these neurons to become damaged and die over time, although the exact mechanism is unknown. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1.

Where is the IGHMBP2 gene located?

Cytogenetic Location: 11q13.3

Molecular Location on chromosome 11: base pairs 68,903,851 to 68,940,601

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The IGHMBP2 gene is located on the long (q) arm of chromosome 11 at position 13.3.

The IGHMBP2 gene is located on the long (q) arm of chromosome 11 at position 13.3.

More precisely, the IGHMBP2 gene is located from base pair 68,903,851 to base pair 68,940,601 on chromosome 11.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about IGHMBP2?

You and your healthcare professional may find the following resources about IGHMBP2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IGHMBP2 gene or gene products?

  • cardiac transcription factor 1
  • CATF1
  • FLJ34220
  • FLJ41171
  • HCSA
  • HMN6
  • SMARD1
  • SMUBP2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding IGHMBP2?

acids ; atrophy ; brainstem ; cardiac ; cell ; DNA ; DNA replication ; enzyme ; gene ; helicase ; immunoglobulin ; inherited ; motor ; protein ; respiratory ; RNA ; transcription ; transcription factor ; translation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet. 2009 Jun 15;18(12):2115-26. doi: 10.1093/hmg/ddp134. Epub 2009 Mar 19. (
  • Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plöttner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol Genet. 2009 Apr 1;18(7):1288-300. doi: 10.1093/hmg/ddp028. Epub 2009 Jan 20. (
  • Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lützkendorf S, Hübner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med (Berl). 2009 Jan;87(1):31-41. doi: 10.1007/s00109-008-0402-7. Epub 2008 Sep 18. (
  • Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat. 2007 Aug;28(8):808-15. (
  • Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989. (
  • NCBI Gene (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: January 2013
Published: February 1, 2016