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ADAMTSL4

Function

Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.

Involvement in disease

Ectopia lentis 2, isolated, autosomal recessive

ECTOL2

An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.

None

The disease is caused by variants affecting the gene represented in this entry.

Ectopia lentis et pupillae

ECTOLP

An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs. N- and C-glycosylations can also facilitate secretion (By similarity).

Tissue specificity

Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin.

Cellular localization

  • Secreted
  • Extracellular space
  • Extracellular matrix
  • Colocalizes with FMN1 microfibrils in the eye ECM.

Alternative names

  • ADAMTS-like protein 4
  • ADAMTSL-4
  • Thrombospondin repeat-containing protein 1
  • PP1396
  • ADAMTSL4
  • TSRC1
  • UNQ2803/PRO34012

Target type

Proteins

Molecular weight

116545Da