Entrez Gene ID | 83872 |
---|---|
Official Gene Symbol | HMCN1 (GeneCards) |
Full name | hemicentin 1 |
Location | 1q25.3-q31.1 |
Other ids | Vega : OTTHUMG00000059337 MIM : 608548 HGNC : HGNC:19194 Ensembl : ENSG00000143341 |
Other names | ARMD1, FBLN6, FIBL6, FIBL-6 |
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] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
965 | 83872 | HMCN1 | 1 | 186121946 | 186121946 | Human Skin Fibroblasts | HiSeq 2500 |
2117 | 83872 | HMCN1 | 1 | 185731931 | 185731931 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
2292 | 83872 | HMCN1 | 1 | 185990719 | 185990719 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
2430 | 83872 | HMCN1 | 1 | 185930944 | 185930944 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
29214 | 83872 | HMCN1 | 1 | 185833720 | 185833720 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten PASM |