LAMC1

LAMC1

A gene on chromosome 1q31 that encodes laminin gamma 1, an extracellular matrix protein that forms a complex with laminin alpha and laminin beta chains, mediating the attachment, migration and organisation of cells into tissues during embryonic development.
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Kojima et al., "Tumor-suppressive microRNA-29s inhibit cancer cell migration and invasion via targeting LAMC1 in prostate cancer," International Journal of Oncology, vol.
It has an essential role in differentiation of neural stems cells and neural progenitor cells (34), and its downregulation promotes growth, invasiveness, and metastasis (35) by targeting laminin, gamma 1 (LAMC1), integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), cyclin-dependent kinase 6 (CDK6), and SRY (sex determining region Y)-box9 (SOX9) (36).
Darbo et al found mutations in extracellular matrix genes NIDI and LAMC1 causing autosomal dominant DWM and occipital cephalocoeles in a family by performing whole exome sequencing.
Mutations in extracellular matrix genes NIDI and LAMC1 cause autosomal dominant Dandy-Walker Malformation and occipital cephalocoeles.
Notably, deletion of the lama1, lamb1, and lamc1 genes result in postimplantation lethality in mice, apparently because laminin 111, the heterotrimer composed of laminin [alpha]1, [beta]1, and [gamma]1, is critical for the initial assembly of epithelial basement membranes [24].
Zebrafish mutations in the lamb1 and lamc1 genes also result in retinal lamination defects, as well as severe lens defects by three days after fertilization including the ectopic position of the lens within the retina, loss of lens capsule integrity, and inappropriate localization of the zebrafish lens marker ZL-1.
No human diseases have been associated with mutations in LAMA1, LAMA5, and LAMC1 (encodes laminin [gamma]1) to date, although lama1, lama5, lamb1, and lamc1 null mice are embryonic lethal [24, 45, 46], while a hypomorphic allele of lamal results in retinal defects in mice [47], point mutations in LAMB1 result in lissencephaly-5 in humans [ 48], and mutations of LAMB2 result in Pierson syndrome [49], which causes severe nephrosis and ocular abnormalities including lens malformations and cataracts demonstrating the critical role that these laminins play in development.
The loss of the lens capsule and lens fragmentation seen in [lama1.sup.a69/a69] (Figures 1 and 2) as well as lamb1 and lamc1 mutants [18] implies that laminin 111 is important to form the lens capsule and is consistent with our prior understanding of the role of the lens capsule in the maintenance of lens structural integrity [1,19].
Among the DE-transcripts, COL8A2, COL12A1, COL13A1, LOC424798, LAMA2, LAMA4, LAMB4, and LAMC1 may be related to extracellular matrix formation; while CHST3, GALNTL1, NDST4, LARGE, POFUT2, RCJMB04_28l23, and MAN1A2 are all localized in the endoplasmic reticulum or Golgi apparatus, and likely mediate the processes of carbohydrate metabolism, or posttranslation glycosylation modification.
LAMC1 - the second gene in the laminin gene family found to be associated with colorectal cancer