Mutations in a Novel Gene, Encoding a Single Transmembrane Domain Protein Are Associated with Familial Glucocorticoid Deficiency Type 2

2004 ◽  
Vol 30 (4) ◽  
pp. 889-890 ◽  
Author(s):  
Louise A. Metherell ◽  
Sadani Cooray ◽  
Angela Huebner ◽  
Franz Ruschendorf ◽  
Danielle Naville ◽  
...  
Keyword(s):  
Transmembrane Domain ◽  
Gene Encoding ◽  
Novel Gene ◽  
Domain Protein ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

2002 ◽  
Vol 111 (4-5) ◽  
pp. 428-434 ◽  
Author(s):  
Emmanuelle Génin ◽  
Angela Huebner ◽  
Christine Jaillard ◽  
Armelle Faure ◽  
Georges Halaby ◽  
...  
Keyword(s):  
Glucocorticoid Deficiency ◽  
Deficiency Type

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

2005 ◽  
Vol 37 (2) ◽  
pp. 166-170 ◽  
Author(s):  
Louise A Metherell ◽  
J Paul Chapple ◽  
Sadani Cooray ◽  
Alessia David ◽  
Christian Becker ◽  
...  
Keyword(s):  
Acth Receptor ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

scholarly journals Familial Glucocorticoid Deficiency Type 2 in Two Neonates

2003 ◽  
Vol 23 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Pallath Ramachandran ◽  
Armelle Penhoat ◽  
Danielle Naville ◽  
Martine Begeot ◽  
Laila Osama Abdel-Wareth ◽  
...  
Keyword(s):  
Glucocorticoid Deficiency ◽  
Deficiency Type

scholarly journals Familial Glucocorticoid Deficiency Type 2: A Case Report - Case Report

2010 ◽  
Vol 2 (3) ◽  
pp. 122-125 ◽  
Author(s):  
Leyla Akın ◽  
Selim Kurtoğlu ◽  
Mustafa Kendirci ◽  
Mustafa Ali Akın
Keyword(s):  
Case Report ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1997 ◽  
Vol 17 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Friedhelm Hildebrandt ◽  
Edgar Otto ◽  
Cornelia Rensing ◽  
Hans Gerd Nothwang ◽  
Martin Vollmer ◽  
...  
Keyword(s):  
Sh3 Domain ◽  
Gene Encoding ◽  
Novel Gene ◽  
Domain Protein

scholarly journals Localization to Mature Melanosomes by Virtue of Cytoplasmic Dileucine Motifs Is Required for Human OCA2 Function

2009 ◽  
Vol 20 (5) ◽  
pp. 1464-1477 ◽  
Author(s):  
Anand Sitaram ◽  
Rosanna Piccirillo ◽  
Ilaria Palmisano ◽  
Dawn C. Harper ◽  
Esteban C. Dell'Angelica ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Steady State ◽  
Subcellular Localization ◽  
Transmembrane Domain ◽  
Pigment Cell ◽  
Oculocutaneous Albinism ◽  
Melanin Synthesis ◽  
Sorting Motif ◽  
Domain Protein

Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases. The function of the OCA2 protein remains unknown, and its subcellular localization is under debate. Here, we show that endogenous OCA2 in melanocytic cells rapidly exits the endoplasmic reticulum (ER) and thus does not behave as a resident ER protein. Consistently, exogenously expressed OCA2 localizes within melanocytes to melanosomes, and, like other melanosomal proteins, localizes to lysosomes when expressed in nonpigment cells. Mutagenized OCA2 transgenes stimulate melanin synthesis in OCA2-deficient cells when localized to melanosomes but not when specifically retained in the ER, contradicting a proposed primary function for OCA2 in the ER. Steady-state melanosomal localization requires a conserved consensus acidic dileucine-based sorting motif within the cytoplasmic N-terminal region of OCA2. A second dileucine signal within this region confers steady-state lysosomal localization in melanocytes, suggesting that OCA2 might traverse multiple sequential or parallel trafficking routes. The two dileucine signals physically interact in a differential manner with cytoplasmic adaptors known to function in trafficking other proteins to melanosomes. We conclude that OCA2 is targeted to and functions within melanosomes but that residence within melanosomes may be regulated by secondary or alternative targeting to lysosomes.

scholarly journals Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

Endocrinology ◽  
2010 ◽  
Vol 151 (6) ◽  
pp. 2957-2958
Author(s):  
C. R. Hughes ◽  
T. T. Chung ◽  
A. M. Habeb ◽  
F. Kelestimur ◽  
A. J. L. Clark ◽  
...  
Keyword(s):  
Late Onset ◽  
Accessory Protein ◽  
Missense Mutations ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type ◽  
Receptor Accessory Protein
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