Gene: CHODL

Alternate names for this Gene: C21orf68|MT75|PRED12

Gene Summary: This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.1

Description of this Gene: chondrolectin

Type of Gene: protein-coding

rs17768858 in CHODL 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.

rs77600076 in CHODL gene and Bulimia Nervosa PMID 23568457 2013 Genetic variants associated with disordered eating.

rs7280675 in CHODL gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.

rs17768858 in CHODL 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.