| Name |
|---|
IGIP GeneIgA-inducing protein Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
IGAD1 Geneimmunoglobulin A (IgA) deficiency susceptibility 1 |
IGAN2 GeneIgA nephropathy, susceptibility to, 2 |
FCAR GeneFc fragment of IgA receptor This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
JCHAIN Genejoining chain of multimeric IgA and IgM Enables IgA binding activity and protein homodimerization activity. Contributes to several functions, including immunoglobulin receptor binding activity; peptidoglycan binding activity; and phosphatidylcholine binding activity. Involved in several processes, including glomerular filtration; innate immune response; and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex; pentameric IgM immunoglobulin complex; and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGAN1 GeneIgA nephropathy |
FCAMR GeneFc receptor, IgA, IgM, high affinity Predicted to enable IgA binding activity; IgM binding activity; and transmembrane signaling receptor activity. Predicted to be involved in signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CILD4 GeneCiliary dyskinesia, primary, 4 |
PSC GeneCholangitis, primary sclerosing |
PIFO Geneprimary cilia formation Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in positive regulation of kinase activity. Predicted to be located in ciliary basal body and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025] |
IPOX GeneIntestinal pseudoobstruction, neuronal, primary idiopathic |
PPH2 Geneprimary pulmonary hypertension 2 |
PLSA1 GenePrimary lateral sclerosis, adult, 1 |
MYD88 Genemyeloid differentiation primary response 88 This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
PRD Geneprimary retinal dysplasia |
GLC3B Geneglaucoma 3, primary infantile, B |
GLC3C Geneglaucoma 3, primary congenital, C |
HDLCQ14 GeneHypoalphalipoproteinemia, primary |
LOC102724175 Genemembrane primary amine oxidase-like |
CILD8 GeneCiliary dyskinesia, primary, 8 |
PBC3 GeneBiliary cirrhosis, primary, 3 |
PBC2 GeneBiliary cirrhosis, primary, 2 |
PBC5 GeneBiliary cirrhosis, primary, 5 |
PBC4 GeneBiliary cirrhosis, primary, 4 |
DPCD Genedeleted in primary ciliary dyskinesia homolog (mouse) This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016] |