| Entrez Gene ID | 23499 |
|---|---|
| Official Gene Symbol | MACF1 (GeneCards) |
| Full name | microtubule-actin crosslinking factor 1 |
| Location | 1p34.3 |
| Other ids | Vega : OTTHUMG00000007754 MIM : 608271 HGNC : HGNC:13664 Ensembl : ENSG00000127603 |
| Other names | ACF7, MACF, OFC4, ABP620 |
| Summary | This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1424 | 23499 | MACF1 | 1 | 39903616 | 39903616 | Autism Spectrum Disorders | NextSeq500 v2 |
| 2340 | 23499 | MACF1 | 1 | 39652718 | 39652718 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 2341 | 23499 | MACF1 | 1 | 39825960 | 39825960 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 22489 | 23499 | MACF1 | 1 | 39764010 | 39764010 | Asymptomatic | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29708 | 23499 | MACF1 | 1 | 39784265 | 39784265 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |
| 29709 | 23499 | MACF1 | 1 | 39903616 | 39903616 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |