|
Gene id |
6901 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TAZ Gene UCSC Ensembl |
|
Aliases |
BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, Taz1 |
|
Gene name |
tafazzin |
|
Alternate names |
tafazzin, protein G4.5, |
|
Gene location |
Xq28 (154411517: 154421725) Exons: 11 NC_000023.11
|
|
Gene summary(Entrez) |
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocard
|
|
OMIM |
300394 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa00564 | Glycerophospholipid metabolism | |
|
| Associated diseases |
References |
| Dilated cardiomyopathy | GAD: 20474083 |
| Dilated cardiomyopathy | GAD: H00294 |
| Thyroid dysgenesis | GAD: 19542741 |
| 3-Methylglutaconic aciduria | GAD: H00754 |
| Barth syndrome | GAD: H00654 |
| Required for Male germ cell meiosis and spermatogenesis | MIK: 26114544 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Required for Male germ cell meiosis and spermatogenesis | MIK: 26114544 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26114544 |
Required f
or Male ge
rm cell me
iosis and
spermatoge
nesis
|
|
|
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|