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Reviewed February 2012
What is the official name of the BSCL2 gene?
The official name of this gene is “Berardinelli-Seip congenital lipodystrophy 2 (seipin).”
BSCL2 is the gene's official symbol. The BSCL2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the BSCL2 gene?
The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Within cells, seipin is found in the membrane of a tube-like structure called the endoplasmic reticulum. The endoplasmic reticulum modifies newly produced proteins and also helps transport proteins, fats, and other molecules to specific sites either inside or outside the cell. The BSCL2 gene is active in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. The gene is also active in fat-storing cells called adipocytes, and studies suggest that seipin may play a critical role in the early development of these cells.
How are changes in the BSCL2 gene related to health conditions?
Where is the BSCL2 gene located?
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 62,690,261 to 62,709,618
The BSCL2 gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the BSCL2 gene is located from base pair 62,690,261 to base pair 62,709,618 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BSCL2?
You and your healthcare professional may find the following resources about BSCL2 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 BSCL2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding BSCL2?
acids ; adipocytes ; adipose tissue ; amino acid ; asparagine ; cell ; congenital ; disability ; distal ; endoplasmic reticulum ; gene ; hereditary ; leucine ; lipodystrophy ; motor ; mutation ; neuropathy ; peripheral ; peripheral nerves ; protein ; sensory cells ; serine ; spasticity ; syndrome ; tissue ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (16 links)
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.