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Genetics Home Reference: your guide to understanding genetic conditions
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FAM134B

Reviewed May 2011

What is the official name of the FAM134B gene?

The official name of this gene is “family with sequence similarity 134, member B.”

FAM134B is the gene's official symbol. The FAM134B gene is also known by other names, listed below.

What is the normal function of the FAM134B gene?

The FAM134B gene provides instructions for making a protein important for the survival of sensory and autonomic nerve cells (neurons). Sensory neurons transmit pain, touch, and temperature sensations. Autonomic neurons help control involuntary functions of the body such as heart rate and blood pressure. Within neurons, the FAM134B protein is found in a structure called the Golgi apparatus, which is important for distribution of proteins to the cell. However, the function of the FAM134B protein is unknown. Studies have shown that neurons in which the FAM134B protein is absent die by a process of self-destruction called apoptosis.

How are changes in the FAM134B gene related to health conditions?

hereditary sensory and autonomic neuropathy type II - caused by mutations in the FAM134B gene

Mutations in the FAM134B gene are responsible for one type of hereditary sensory and autonomic neuropathy type II (HSAN2) called HSAN2B. People with HSAN2B lose the ability to feel pain or sense hot and cold. The FAM134B gene mutations may lead to an abnormally short and nonfunctional protein. The lack of FAM134B protein causes neurons to undergo apoptosis, which reduces the overall number of sensory and autonomic neurons. The loss of neurons results in the signs and symptoms of HSAN2B.

Where is the FAM134B gene located?

Cytogenetic Location: 5p15.1

Molecular Location on chromosome 5: base pairs 16,472,812 to 16,617,057

The FAM134B gene is located on the short (p) arm of chromosome 5 at position 15.1.

The FAM134B gene is located on the short (p) arm of chromosome 5 at position 15.1.

More precisely, the FAM134B gene is located from base pair 16,472,812 to base pair 16,617,057 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FAM134B?

You and your healthcare professional may find the following resources about FAM134B 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 FAM134B gene or gene products?

  • F134B_HUMAN
  • FAM134B protein
  • FAM134B protein isoform 1
  • FAM134B protein isoform 2
  • FLJ20152
  • FLJ22155
  • FLJ22179
  • JK1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FAM134B?

apoptosis ; cell ; gene ; Golgi apparatus ; hereditary ; involuntary ; neuropathy ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B (http://omim.org/entry/613114)
  • Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18. (http://www.ncbi.nlm.nih.gov/pubmed/19838196?dopt=Abstract)
  • Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28. (http://www.ncbi.nlm.nih.gov/pubmed/21115472?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/54463)
  • Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006 Feb;21(2):247-55. Epub 2005 Sep 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16183296?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2011
Published: December 16, 2014