- 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]
- Caps2 [Search on AGR]
Homo sapiens Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]
- 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]
- Catsperg [Search on AGR]
Homo sapiens CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]
- Utp20 [Search on AGR]
Homo sapiens UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
- Ebf4 [Search on AGR]
Homo sapiens EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
- Pebp4 [Search on AGR]
Homo sapiens The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]
- Taf1d [Search on AGR]
Homo sapiens TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]