Gene: GRIK1

Alternate names for this Gene: EAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5

Gene Summary: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.3

Description of this Gene: glutamate ionotropic receptor kainate type subunit 1

Type of Gene: protein-coding

Gene: BACH1

Alternate names for this Gene: BACH-1|BTBD24

Gene Summary: This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.3

Description of this Gene: BTB domain and CNC homolog 1

Type of Gene: protein-coding

rs2832402 in GRIK1;BACH1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2154490 in GRIK1;BACH1 gene and Bone necrosis PMID 26265699 2015 Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia.

rs2832402 in GRIK1;BACH1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.