Information on MRTFA
Basic details
Alt. symbols: MKL1 | KIAA1438 | MAL | MRTF-A | BSAC | MKL
Approved name: myocardin related transcription factor A
Alt. names: megakaryoblastic leukemia (translocation) 1 | megakaryocytic acute leukemia, basic, SAP and coiled-coil domain
Location: 22q13.2: 40410281 - 40636719 (-)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.218000 | pLI: 0.54032417 | LOEUF: 0.259
Normal function
MKL1 is a coactivator of serum response factor, which regulates transcription of actin and actin cytoskeleton-related genes. Record J. et al. (2015) showed that MKL1 is a nonredundant regulator of cytoskeleton-associated functions in immune cells and fibroblasts (PMID:26224645).
Dysfunction and disease
Record J. et al. (2015) reported the first homozygous nonsense mutation (p.K723*) in MKL1 (MRTFA) in a patient with an immunodeficiency characterized predominantly by susceptibility to severe bacterial infections (PMID:26224645). They observed that loss of MKL1 protein expression led to a dramatic loss of F-actin content in both lymphoid and myeloid cells and widespread cytoskeletal dysfunction. This translated into reduced phagocytosis and near absent migration of neutrophils in vitro. Similarl y, primary dendritic cells were unable to spread normally or to form podosomes. Silencing of MKL1 in myeloid cell lines revealed that F-actin assembly was abrogated through reduction of G-actin levels and disturbed expression of multiple actin-regulating genes. Impaired migration of these cells was associated with failure of uropod retraction likely due to altered contractility and adhesion (PMID:26224645). [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2024-06-15 15:36:19]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD66b |
Immunodeficiency 66 | AR |
Loss of Function | 618847 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of MRTFA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 217 | ENST00000652095.2 | 2 | CCDS82720 | protein_coding | 13 | No | 4194 | NM_001318139 | |
| 215 | ENST00000651595.2 | protein_coding | 15 | No | 4506 | NM_001282662 | |||
| 201 | ENST00000355630.10 | 1 | Select | protein_coding | 15 | Yes | 4522 | NM_020831 | |
| 203 | ENST00000402042.7 | protein_coding | 14 | No | 4343 | NM_001282661 | |||
| 205 | ENST00000407029.7 | CCDS14003 | protein_coding | 12 | No | 4110 | NM_001282660 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in MRTFA
| ID | Year | Title | Journal | PMID | Variants |
|---|