TīmeklisLAMA5 belongs to the alpha subfamily of laminin chains and is a major component of basement membranes. Two transcript variants encoding different isoforms have been found for this gene. The laminins, a family of heterotrimeric extracellular glycoproteins, affect tissue development and integrity in such diverse organs as the kidney, lung, … Tīmeklis2024. gada 1. marts · In ∼30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes laminin …
Lama5 MGI Mouse Gene Detail - MGI:105382 - laminin, alpha 5
TīmeklisFRG1B has 2,516 functional associations with biological entities spanning 7 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets. TīmeklisLama5 Gene Detail Summary Symbol Lama5 Name laminin, alpha 5 Synonyms mKIAA0533 Feature Type protein coding gene IDs MGI:105382 NCBI Gene: 16776 Alliance gene page Transcription Start Sites 5 TSS Location & Maps more Sequence Map Chr2:179818166-179867652 bp, - strand From Ensembl annotation of GRCm39 … cj2500 snap on puller set
Genetic variation in a member of the laminin gene family affects ...
TīmeklisLaminins function as heterotrimeric complexes of alpha, beta, and gamma chains, with each chain type representing a different subfamily of proteins. The protein … Tīmeklis2024. gada 21. marts · Entrez Gene Summary for EVPL Gene. This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and … Tīmeklis2024. gada 15. okt. · For the newly discovered LAMA5 variants, we conducted in vitro heterotrimer formation assays. Results: Biallelic truncating variants in the LAMA5 … dow chemical hr contact