Information on TAFAZZIN
Basic details
Alt. symbols: TAZ | CMD3A | EFE2 | EFE | BTHS | XAP-2 | G4.5 | TAZ1
Approved name: tafazzin, phospholipid-lysophospholipid transacylase
Alt. names: endocardial fibroelastosis 2, cardiomyopathy, dilated 3A (X-linked) | Barth syndrome
Location: Xq28: 154411524 - 154421726 (+)
Gene type: protein_coding, 38 transcripts.
Scores: LoFtool: 0.087400 | pLI: 0.96652648 | LOEUF: 0.485
Normal function
Dysfunction and disease
Barth syndrome [MIM:302060] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BTHS |
Barth syndrome | XLR |
302060 |
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 TAFAZZIN
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 214 | ENST00000612012.5 | CCDS14750 | protein_coding | 10 | No | 1230 | NM_181312 | ||
| 215 | ENST00000612460.5 | CCDS14749 | protein_coding | 10 | No | 1790 | NM_181311 | ||
| 227 | ENST00000652358.1 | protein_coding | 10 | No | 832 | XM_017029764 | |||
| 221 | ENST00000616020.5 | protein_coding | 10 | No | 891 | NM_001303465 | |||
| 216 | ENST00000613002.4 | CCDS35450 | protein_coding | 9 | No | 1485 | NM_181313 | ||
| 205 | ENST00000475699.6 | protein_coding | No | 1632 | NM_001410698 | ||||
| 213 | ENST00000601016.6 | 1 | CCDS14748 | Select | protein_coding | 11 | Yes | 1906 | NM_000116 |
| 226 | ENST00000652354.1 | protein_coding | No | 1469 | XM_011531191 |
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. |
| - | Skewed X-linked inactivation | - | 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 TAFAZZIN
| ID | Year | Title | Journal | PMID | Variants |
|---|