- Ahdc1 [Search on AGR]
Homo sapiens This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
- Ahdc1 [Search on AGR]
Mus musculus PHENOTYPE: Mosaic mice with CRISPR cutting on at least one allele exhibit developmental patterning defects affecting craniofacial structure, abdominal wall closure and epidermal stratification that mirror phenotypes seen in Xia-Gibbs syndrome. [provided by MGI curators]
- Ahdc1 [Search on AGR]
Rattus norvegicus Predicted to enable DNA-binding transcription factor activity and promoter-enhancer loop anchoring activity. Predicted to be involved in mesoderm formation and skin morphogenesis. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Xia-Gibbs Syndrome. Orthologous to human AHDC1 (AT-hook DNA binding motif containing 1); INTERACTS WITH 1,2-dimethylhydrazine; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene.
- Serpina10 [Search on AGR]
Homo sapiens The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]
- F11 [Search on AGR]
Homo sapiens This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]
- F9 [Search on AGR]
Homo sapiens This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]