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ADAMTSL4 is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. Additionally we are shipping ADAMTSL4 Antibodies (30) and ADAMTSL4 Kits (3) and many more products for this protein.
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study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis
ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications.
Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis
We have confirmed the gene and protein expression of ADAMTSL4 in human ocular tissue. The pattern of expression may suggest further functions of this gene beyond those suggested by its causative role in isolated ectopia lentis.
Patients from a family with ectopia lentis et pupillae (ELP (show NR5A1 Proteins)) in four generations have autosomal recessive ELP (show NR5A1 Proteins) caused by novel mutations in ADAMTSL4.
Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length.
Enhanced fibrillin-1 (show FBN1 Proteins) deposition in the presence of ADAMTSL4 and colocalization of ADAMTSL4 with fibrillin-1 (show FBN1 Proteins) in the ECM (show MMRN1 Proteins) of cultured fibroblasts suggest a potential role for ADAMTSL4 in the formation or maintenance of the zonule.
The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population.
This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families.
Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive ectopia lentis.
the first ADAMTSL4 (show THSD4 Proteins) mouse model, tvrm267, bearing a nonsense mutation in Adamtsl4 (show THSD4 Proteins)
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
, thrombospondin repeat containing 1
, ADAMTS-like protein 4
, thrombospondin repeat-containing protein 1
, thrombospondin repeat protein 1