|
Gene id |
386593 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CHKB-CPT1B Gene UCSC Ensembl |
|
Aliases |
CHKL-CPT1B, CPT1-M, CPT1B, CPTI-M |
|
Gene name |
CHKB-CPT1B readthrough (NMD candidate) |
|
Alternate names |
CHKB-CPT1B readthrough (non-protein coding), CPT I, Carnitine O-palmitoyltransferase 1, muscle isoform, Carnitine palmitoyltransferase 1B, Carnitine palmitoyltransferase I-like protein, choline kinase-like, carnitine palmitoyltransferase 1B (muscle) transcript, |
|
Gene location |
22q13.33 (50582998: 50568860) Exons: 30 NC_000022.11
|
|
Gene summary(Entrez) |
The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [
|
|
OMIM |
0 |
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|