Gene: KAZN

Alternate names for this Gene: C1orf196|KAZ

Gene Summary: This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.21

Description of this Gene: kazrin, periplakin interacting protein

Type of Gene: protein-coding

rs16853497 in KAZN 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.

rs72639058 in KAZN gene and Alzheimer's Disease PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs12068879 in KAZN gene and Major Depressive Disorder PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.

PMID 31164008 2019 GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

rs72639058 in KAZN gene and Memory performance PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs12068879 in KAZN gene and Mood Disorders PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.

rs880923 in KAZN gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16853497 in KAZN 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.

rs76347430 in KAZN gene and Suicide attempt PMID 31164008 2019 GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

rs187163948 in KAZN gene and Triglycerides measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.