- SPANXN5 [Search on AGR]
Homo sapiens ASSOCIATED WITH Autism; autistic disorder; Stocco Dos Santos type X-linked intellectual disability; INTERACTS WITH 15-acetyldeoxynivalenol; benzo[a]pyrene; butanal
- MAGED4B [Search on AGR]
Homo sapiens ASSOCIATED WITH Autism; autistic disorder; Stocco Dos Santos type X-linked intellectual disability; INTERACTS WITH 5-fluorouracil; amiodarone; bisphenol A
- Myo1g [Search on AGR]
Homo sapiens MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]
- Shroom4 [Search on AGR]
Homo sapiens This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]
- Gp5 [Search on AGR]
Homo sapiens Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]
- TRX-CAT2-1 [Search on AGR]
Homo sapiens Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009]