ADAMTSL4 ADAMTS like 4
Gene ID: 54507, updated on 7-Apr-2024Gene type: protein coding
Also known as: TSRC1; ECTOL2; ADAMTSL-4
- See all available tests in GTR for this gene
- Go to complete Gene record for ADAMTSL4
- Go to Variation Viewer for ADAMTSL4 variants
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ectopia lentis 2, isolated, autosomal recessive | See labs |
| Ectopia lentis et pupillae | See labs |
| 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 |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADAMTSL4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ADAMTSL4 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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