ADAMTSL4 ADAMTS like 4
Gene ID: 54507, updated on 10-Oct-2024Gene type: protein coding
Also known as: TSRC1; ECTOL2; ADAMTSL-4
Summary
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a 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. [provided by RefSeq, Sep 2014]
Associated conditions
| Description | Tests |
|---|---|
| Ectopia lentis 2, isolated, autosomal recessive | not available |
| Ectopia lentis et pupillae | not available |
| Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. GeneReviews: Not available |
Genomic context
- Location:
- 1q21.2
- Sequence:
- Chromosome: 1; NC_000001.11 (150549408..150560937)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for ADAMTSL4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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