| HMCN1 |
| LOCUS ID | 83872 | ||||||||||
| GENE_SYMBOL | HMCN1 | ||||||||||
| GENE NAME | hemicentin 1 | ||||||||||
| SYNONYMNS | ARMD1, FBLN6, FIBL6, FIBL-6 | ||||||||||
| CHROMOSOME | 1 | ||||||||||
| HOMOLOGENE ID | 23741 |
| microRNAs | NA | NA |
| GENE 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] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Of the other eight candidate genes, an association of DN with a SNP pair, rs2146098 and rs6659783, was found in hemicentin 1 (HMCN1) (unadjusted P = 6.1 x 10(-5)). The associations in CNDP1 or ELMO1 were not replicable; however, an association of DN with HMCN1 was found. | 20299368 |