anosmin 1
Última actualización 18 Aug 2020
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El ANOS1 gene, also known as KAL1, provides instructions for making a protein called anosmin-1. This protein is involved in development before birth. Anosmin-1 is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Anosmin-1 is active in many parts of the developing embryo, including the respiratory tract, kidneys, digestive system, and certain regions of the brain.
Normal function
El ANOS1 gene, also known as KAL1, provides instructions for making a protein called anosmin-1. This protein is involved in development before birth. Anosmin-1 is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Anosmin-1 is active in many parts of the developing embryo, including the respiratory tract, kidneys, digestive system, and certain regions of the brain.
Researchers are working to determine the functions of anosmin-1. They have discovered that, in the developing brain, this protein is involved in the movement (migration) of nerve cells and the outgrowth of axons, which are specialized extensions of nerve cells that transmit nerve impulses. The protein also plays a role in regulating contact between nerve cells (cell adhesion).
Anosmin-1 appears to help control the growth and migration of a group of nerve cells that are specialized to process the sense of smell (olfactory neurons). These nerve cells originate in the developing nose and then migrate together to a structure in the front of the brain called the olfactory bulb, which is critical for the perception of odors. Studies suggest that anosmin-1 is also involved in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). Like olfactory neurons, GnRH-producing neurons migrate from the developing nose to the front of the brain. GnRH controls the production of several hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the ovaries in women and testes in men.
Conditions referring to this gene or chromosome
Otros nombres
adhesion molecule-like X-linked
ADMLX
anosmin-1
HHA
KAL
KAL1
KALIG-1
Kallmann syndrome 1 protein
Kallmann syndrome protein
KALM_HUMAN
KMS
WFDC19
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Lecturas adicionales y referencias
- anosmin 1; MedlinePlus, National Library of Medicine.
- Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [updated 2022 May 12]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1334/
- Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum Mol Genet. 2004 Nov 15;13(22):2781-91. doi: 10.1093/hmg/ddh309. Epub 2004 Oct 7.
- Choy C, Kim SH. Biological actions and interactions of anosmin-1. Front Horm Res. 2010;39:78-93. doi: 10.1159/000312695. Epub 2010 Apr 8.
- de Castro F, Esteban PF, Bribian A, Murcia-Belmonte V, Garcia-Gonzalez D, Clemente D. The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond. Adv Neurobiol. 2014;8:273-92. doi: 10.1007/978-1-4614-8090-7_12.
- Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, Ayer-Le Lievre C, Petit C. Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. Dev Dyn. 1999 May;215(1):26-44. doi: 10.1002/(SICI)1097-0177(199905)215:13.0.CO;2-D.
- Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, et al. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4. doi: 10.1073/pnas.89.17.8190.
- Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 1991 Oct 18;67(2):423-35. doi: 10.1016/0092-8674(91)90193-3.
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