LAMB2

LAMB2

A gene on chromosome 3p21 that encodes laminin beta 2, an extracellular matrix protein most commonly found in the basement membrane of muscles at neuromuscular junctions, renal glomeruli and vascular smooth muscle. LAMB2 is also the retired HUGO symbol for what is now designated LAMC1, see there.
References in periodicals archive ?
Glomeruli are functional filtration units comprising a capillary network of endothelial cells and mesangial cells, which are separated from podocytes by a basement membrane.[17],[18] Podocyte injury and loss contribute to proteinuria and glomerulosclerosis.[7],[19],[20],[21],[22],[23] Numerous podocyte gene products, such as nephrin (NPHS1),[24] podocin (NPHS2),[25] laminin beta-2 (LAMB2),[26],[27] a-actinin-4 (ACTN4),[28] Wilms' tumor suppressor gene 1 (WT1),[29] and inverted forming 2 (INF2),[30] are required to construct the podocyte body and foot processes.
Because of LAMB2's well-defined role in axonal development and neurotransmission, and because we previously found associations of residential proximity to roadways and cognitive outcomes, we fit multivariate linear regression models to examine the association between LAMB2 related CpG sites (FDR <0.05) in the cord blood with each cognitive test measured at midchildhood, which includes KBIT-2 verbal test (range = 46-146), KBIT-2 nonverbal test (range = 56-147), visual-motor subtest of WRAVMA (range = 45-155), design memory (range = 1-15), and picture memory (range = 1 -17) of WRAML2 and WRAML visual standard score (range = 4-28).
IGF2BP2 was originally identified as an RBP capable of binding IGF2 mRNA [9], and later studies suggest that it also targets other transcripts, such as LAMB2 [10], LIMS2 [11], TRIM54 [11], UCP1 [12], and 12 other genes encoding mitochondrial components [12].
Vlangos et al., "Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)" Pediatrics, vol.
Alkandari et al., "Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum," Human Mutation, vol.
The mutations in podocyte genes result in either autosomal recessive FSGS (NPHS1, NPHS2, LAMB2, PLCE1, ARGHDIA, MYO1E and other genes) or autosomal dominant FSGS (ACTN4, CD2AP, INF2, TRPC6, WT1, ARHGAP24 and other genes) or mitochondrial disorders (CoQ6, tRNALeu, tRNATyr, tRNAIle).
NPHS2 (encoding podocin), WT1 (exons 8 and 9) and LAMB2 (encoding laminin-[beta]2) are causes of two thirds of cases of nephrotic syndrome with onset in the first year of life.
The lens capsule has been reported to contain laminin a1, [alpha]5, [beta]1, [beta]2, and [gamma]1 [22], and mutations in human LAMB2 results in Pierson's syndrome, which is characterized by severe kidney disease associated with multiple ocular abnormalities including lens malformations and cataracts [23].
Measure 37 claims: Benedick; Brewer2; Byers; Cross; Davidson2; Gabrielson; Harding1; Harding2; Henton; Hillyard; Lamb2; Louvring; Makinson2; McDonald; Miller; Mord1; Mord2; Murray1; Murry2; Nelson; Obie; Odegaard; Patterson; Pope; Ritter; Scott; Slocum; Taylor2; Thienes; Wagner; Wilson; Zip-o-Logs.
[14] screened the four genes NPHS1 (OMIM * 602716), NPHS2 (OMIM * 604766), WT1 (OMIM * 607102), and LAMB2 (OMIM * 150325) in a large European cohort of 89 children from 80 families with NS manifesting in the first year oflife.
In a large European cohort of 89 children with INS occurring during first year of life, two thirds of the cases were attributable to mutations of one of the four genes; NPHS1, NPHS2, WT1 and LAMB2. The NPHS1 and NPHS2 genes together constituted the vast preponderance of genetic causes of NS in these children.7 Several other genes, including WT1, TRPC6, and ACTN4, have been implicated in the causation of NS in children and adolescents.8,9
Public hearings, Measure 37 claims: Benedick; Brewer2; Byers; Cross; Davidson2; Gabrielson; Harding1; Harding2; Henton; Hillyard; Lamb2; Louvring; Makinson2; McDonald; Miller; Mord1; Mord2; Murray1; Murry2; Nelson; Obie; Odegaard; Patterson; Pope; Ritter; Scott; Slocum; Taylor2; Thienes; Wagner; Wilson; Zip-o-Logs.