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A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency
| Content Provider | Scilit |
|---|---|
| Author | Souri, Masayoshi Koseki-Kuno, Shiori Iwata, Hiroki Kemkes-Matthes, Bettina Ichinose, Akitada |
| Copyright Year | 2005 |
| Description | Protein Z is a vitamin K–dependent glycoprotein that plays a role in the regulation of coagulation. A nucleotide substitution of G by C in exon II of the protein Z gene, resulting in the replacement of Glu-30 with Gln (E30Q), and a G to A transition at the 79th nucleotide in intron F (IntF79G/A) were heterozygously identified in a patient with a severe thrombotic tendency, whose plasma protein Z level was about 15% of normal. Other vitamin K–dependent coagulation factors were within normal ranges. Glu-30 is one of 13 γ-carboxylation sites in protein Z and is well conserved among vitamin K–dependent proteins. Expression studies revealed that the E30Q mutant was not released from synthesizing cells, although wild-type protein Z was readily secreted in a vitamin K–dependent fashion. The E30Q mutant was N-glycosylated, γ-carboxylated, and translocated from the endoplasmic reticulum (ER) to the Golgi in the presence of vitamin K, as was the wild type. Coexpression of E30Q with wild-type protein Z interfered with the secretion of the wild type, while only a minor or no effect was observed on the secretion of factor X and plasminogen. The IntF79A allele has been reported to be also associated with lowered protein Z levels. |
| Related Links | http://bloodjournal.hematologylibrary.org/content/105/8/3149.full.pdf |
| Ending Page | 3154 |
| Page Count | 6 |
| Starting Page | 3149 |
| DOI | 10.1182/blood-2004-06-2250 |
| Journal | Blood |
| Issue Number | 8 |
| Volume Number | 105 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 2005-04-15 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Vitamin K Secretion Glycoprotein Wild Protein Z E30q Journal: Blood (Vol- 104, Issue- 8) |
| Content Type | Text |
| Resource Type | Article |
