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See COM centre organisateur de mobilisation in the Gene database

com in Drosophila melanogaster Neurospora crassa OR74A Escherichia phage D108 All 6 Gene records

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GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 14970061.

GeneReviews Glossary.

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Select item 14757482.

Phenylalanine Hydroxylase Deficiency.

Regier DS, Greene CL. 2000 Jan 10 [Updated 2017 Jan 5].

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Select item 30499023.

Ornithine Transcarbamylase Deficiency.

Lichter-Konecki U, Caldovic L, Morizono H, et al. 2013 Aug 29 [Updated 2022 May 26].

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Select item 14692104.

Myotonic Dystrophy Type 2.

Schoser B. 2006 Sep 21 [Updated 2020 Mar 19].

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Select item 14658205.

Classic Galactosemia and Clinical Variant Galactosemia.

Berry GT. 2000 Feb 4 [Updated 2021 Mar 11].

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Select item 19490146.

Koolen-de Vries Syndrome.

Koolen DA, Morgan A, de Vries BBA. 2010 Jan 26 [Updated 2023 Feb 2].

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Select item 52630927.

Molybdenum Cofactor Deficiency.

Misko A, Mahtani K, Abbott J, et al. 2021 Dec 2 [Updated 2023 Feb 2].

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Select item 14634348.

Disorders of Intracellular Cobalamin Metabolism.

Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2021 Dec 16].

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Select item 14891869.

Alpha-Thalassemia.

Tamary H, Dgany O. 2005 Nov 1 [Updated 2024 May 23].

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Select item 148556010.

COL1A1/2 Osteogenesis Imperfecta.

Steiner RD, Basel D. 2005 Jan 28 [Updated 2024 Mar 14].

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Select item 148615811.

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].

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Select item 147248412.

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Carson VJ. 2006 Jan 30 [Updated 2020 Apr 23].

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Select item 148710213.

Donnai-Barrow Syndrome.

Longoni M, Kantarci S, Donnai D, et al. 2008 Aug 28 [Updated 2018 Nov 21].

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Select item 147229014.

Hereditary Diffuse Gastric Cancer.

Kaurah P, Huntsman DG. 2002 Nov 4 [Updated 2018 Mar 22].

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Select item 247603015.

Phosphorylase Kinase Deficiency.

Herbert M, Goldstein JL, Rehder C, et al. 2011 May 31 [Updated 2018 Nov 1].

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Select item 438241216.

Beta-Propeller Protein-Associated Neurodegeneration.

Gregory A, Kurian MA, Haack T, et al. 2017 Feb 16.

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Select item 149543617.

Baller-Gerold Syndrome.

Van Maldergem L, Piard J, Larizza L, et al. 2007 Aug 13 [Updated 2018 Apr 19].

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Select item 308421218.

SERAC1 Deficiency.

Wortmann SB, de Brouwer APM, Wevers RA, et al. 2014 Apr 17 [Updated 2020 Jul 23].

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Select item 159027219.

Spondylocostal Dysostosis, Autosomal Recessive.

Turnpenny PD, Sloman M, Dunwoodie S. 2009 Aug 25 [Updated 2023 Aug 17].

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Select item 234689620.

CEBPA-Associated Familial Acute Myeloid Leukemia (AML).

Tawana K, Fitzgibbon J. 2010 Oct 21 [Updated 2021 Feb 18].

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Supplemental Content

Images search in this book

Figure 5.

Schematic representation of complement component C3
The structural organization of C3 contains eight macroglobulins, anaphylatoxin (ANA), αNT, CUB (C1r/C1s, Uegf, Bmp1), C345C, linker, and thioester (TED) domains.

C3 Glomerulopathy.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
Figure 2.

NaV 1.4
The voltage-gated sodium channel of skeletal muscle, NaV1.4 encoded bySCN4A, is composed of four highly homologous domains (DI–DIV) each consisting of six transmembrane segments (S1–S6). When inserted in membrane, the four domains of the protein fold to generate a central pore whereby the S5–S6 loops form the ion-selective pore. The S4 segments contain positively charged residues conferring voltage dependence to the protein. Domains are connected by intracellular loops; one of them, the DIII−DIV linker, contains the inactivation particle of the channel. The sketch gives an overview of locations of disease-associated missense variants in NaV1.4. Different colors indicate resulting diseases such as potassium-aggravated myotonia (PAM), paramyotonia congenita (PMC), hyperkalemic periodic paralysis (hyperPP), hypokalemic periodic paralysis (hypoPP type 2), and normokalemic periodic paralysis (normoPP, type 2).
Modified from Jurkat-Rott et al [2010]

Hypokalemic Periodic Paralysis.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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