Indicadores
Immunoglobulin Light Chain Kappa is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains. Ig kappa light chains contain a variable and a constant region. Kappa light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. Diversity in the kappa light chain V region arises during differentiation of an activated (kappa-type) antibody-producing B-cell from variable recombination of kappa V genes with kappa J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM and NCI)
Indicadores
Immunoglobulin Light Chain Lambda is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains but Ig lambda light chains contain a variable and a constant region. Lambda light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. During differentiation of an activated (lambda-type) antibody-producing B-cell, diversity in the lambda light chain V region arises from variable recombination of lambda V genes with lambda J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM 147220 and NCI)
Artículo
Research record from J Clin Lab Anal, 2026-09-16. PMID 42750388.
Glossary Term
A mutation class that includes insertion mutations, deletion mutations and mutation events where both an insertion and a deletion has occurred.
Pcr Terms
Indicadores
This gene plays a role in cellular hematopoiesis and differentiations. Mutations in the gene are associated with several diseases, including acute myelogenous leukemia, gastrointestinal tumors, and mast cell disease.
Artículo
Research record from Genes (Basel), 2026-07-31. PMID 42650100.
Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Pcr Terms
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
Pcr Terms
Artículo
Research record from Clin Chim Acta, 2026-06-12. PMID 42285341.
Indicadores
This gene plays a role in DNA mismatch repair mutations in the gene result in hereditary nonpolyposis colorectal cancer-1.
Pruebas
An MTHFR gene test checks a sample of your blood for two very common changes in a gene called MTHFR . Changes in your genes are also called gene variants or mutations.
For everyone & professionals
Artículo
Research record from Mol Cell Oncol, 2026-06-25. PMID 42376597.
