BT3A1 Polyclonal Antibody, 100ul Custom DNA Oligos An allele mutation and a

An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome

The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation

including the anticonvulsive drug mephenytoin

The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions

Mutations in this gene have been associated with antenatal Bartter syndrome

BT3A1 Polyclonal Antibody, 100ul Custom DNA Oligos An allele mutation and aThe butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC) associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30. 2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single copy BTN1A1 gene (MIM 601610) and the BTN2 (e. g., BTN2A1; MIM 613590) and BTN3 (e. g., BNT3A1) genes, which have undergone tandem