HMCN1 hemicentin 1
Gene ID: 83872, updated on 17-Jun-2024Gene type: protein coding
Also known as: ARMD1; FBLN6; FIBL6; FIBL-6
- See all available tests in GTR for this gene
- Go to complete Gene record for HMCN1
- Go to Variation Viewer for HMCN1 variants
Summary
This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age related macular degeneration 1 | See labs |
| Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. GeneReviews: Not available |
Genomic context
- Location:
- 1q25.3-q31.1
- Sequence:
- Chromosome: 1; NC_000001.11 (185734391..186190949)
- Total number of exons:
- 108
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HMCN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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