Gene: FBN3

Alternate names for this Gene: -

Gene Summary: This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: fibrillin 3

Type of Gene: protein-coding

rs12460243 in FBN3 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs12460243 in FBN3 gene and AIDS, PROGRESSION TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs12460243 in FBN3 gene and HIV-1 infection PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

rs12460243 in FBN3 gene and HIV-1, RESISTANCE TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs12460243 in FBN3 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 28447399 2017 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.

PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs17160151 in FBN3 gene and Viral Load result PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs111455502 in FBN3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.