TīmeklisList of variants in gene combination LAMB3, MIR4260 reported as likely pathogenic for Junctional epidermolysis bullosa gravis of Herlitz Minimum submission review status: Collection method: ... NM_000228. 3 (LAMB3): c. 2358+2T>C rs1057516838 The information on this website is not intended for direct diagnostic use or medical … TīmeklisLAMB3 encodes the beta 3 subunit of laminin. Laminin is composed of three subunits (alpha, beta, and gamma), and refers to a family of basement membrane proteins. For example, LAMB3 serves as the beta chain in laminin-5. Mutations in LAMB3 have been identified as the cause of various types of epidermolysis bullosa.
Junctional epidermolysis bullosa: MedlinePlus Genetics
TīmeklisThis page was last edited on 6 December 2024, at 13:54. Privacy policy. About SNPedia TīmeklisGene: LAMB3 Alternate names for this Gene: AI1A BM600-125KDA LAM5 LAMNB1 Gene Summary: The product encoded by this gene is a laminin that belongs to a … freeman black sugar scrub
NM_000228.3(LAMB3):c.2358+2T>C AND Junctional …
Tīmeklis2024. gada 21. marts · LAMB3 (Laminin Subunit Beta 3) is a Protein Coding gene. Diseases associated with LAMB3 include Epidermolysis Bullosa, Junctional 1B, … TīmeklisLAMB3 laminin subunit beta 3 [ (human)] Gene ID: 3914, updated on 9-Mar-2024 Summary The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Tīmeklis2024. gada 8. marts · The poor prognosis of patients with pancreatic ductal adenocarcinoma (PDAC) is partially attributed to the invasive and metastatic … blue healing stones names