| Entrez Gene ID | 51474 |
|---|---|
| Official Gene Symbol | LIMA1 (GeneCards) |
| Full name | LIM domain and actin binding 1 |
| Location | 12q13.12 |
| Other ids | Vega : OTTHUMG00000169852 MIM : 608364 HGNC : HGNC:24636 Ensembl : ENSG00000050405 |
| Other names | EPLIN, SREBP3 |
| Summary | This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16955 | 51474 | LIMA1 | 12 | 50683985 | 50683985 | Cockayne syndrome | HiSeq X Ten |