| Gene Symbol |
KLHL40
|
| Entrez Gene |
131377
|
| Alt Symbol |
KBTBD5, NEM8, SRYP, SYRP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
kelch-like family member 40
|
| Other Description |
kelch repeat and BTB (POZ) domain containing 5|kelch repeat and BTB domain-containing protein 5|kelch-like protein 40|nemaline myopathy type 8|sarcosynapsin
|
| Swissprots |
Q96MR2 Q2TBA0 Q86SI1
|
| Accessions |
EAW64664 EAW64665 Q2TBA0 AI274020 AI659482 AK056577 BAB71222 AK291294 BAF83983 AK300682 BAG62365 AW445105 AY176040 AAO22141 AY177390 AAO06908 BC110491 AAI10492 XM_005264866 XP_005264923 NM_152393 NP_689606
|
| Function |
Required for skeletal muscle development. {ECO:0000269|PubMed:23746549}.
|
| Subcellular Location |
Cytoplasm, myofibril, sarcomere, A band {ECO:0000269|PubMed:23746549}.
|
| Tissue Specificity |
Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Aslo expressed in fetal and adult heart. {ECO:0000269|PubMed:23746549}.
|