| Entrez Gene ID | 636 |
|---|---|
| Official Gene Symbol | BICD1 (GeneCards) |
| Full name | BICD cargo adaptor 1 |
| Location | 12p11.21 |
| Other ids | Vega : OTTHUMG00000169307 MIM : 602204 HGNC : HGNC:1049 Ensembl : ENSG00000151746 |
| Other names | BICD, bic-D1 |
| Summary | This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16107 | 636 | BICD1 | 12 | 32556351 | 32556351 | Asymptomatic | HiSeq X Ten |
| 16502 | 636 | BICD1 | 12 | 32481851 | 32481851 | Asymptomatic | HiSeq X Ten |
| 16568 | 636 | BICD1 | 12 | 32318000 | 32318000 | Asymptomatic | HiSeq X Ten |
| 23645 | 636 | BICD1 | 12 | 32534115 | 32534115 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |