Gene: KERA

Alternate names for this Gene: CNA2|KTN|SLRR2B

Gene Summary: The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.33

Description of this Gene: keratocan

Type of Gene: protein-coding

rs11105952 in KERA 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.

rs121917858 in KERA gene and CORNEA PLANA 2 PMID 11726611 2001 A novel keratocan mutation causing autosomal recessive cornea plana.

PMID 10802664 2000 Mutations in KERA, encoding keratocan, cause cornea plana.

rs11105952 in KERA 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.