| Type | Description |
|---|---|
| Definition | tetratricopeptide repeat domain 37 |
| Date | Results | Publications |
|---|---|---|
| 2019-06-01 10:16:00 | We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment. | 29527791 |
| 2019-03-02 11:50:00 | we present seven patients from two families with a new mutation in TTC37. The phenotype is classic, but the disease course is milder, with better intra- and extrauterine growth, less need for parenteral nutrition, and better chance of survival. | 29383842 |
| 2017-01-14 11:13:00 | Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. | 27050310 |
| 2016-07-30 10:28:00 | A PubMed search for bi-allelic TTC37 mutations and phenotypes were recorded in 14 Asian and 12 non-Asian cases | 26945392 |
| 2016-06-28 10:18:00 | This is a report of novel mutations in TTC37 in individuals of East Asian descent. * Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas. | 25976726 |
| Type | IDs |
|---|---|
| Synonymous | KIAA0372, Ski3, THES |
| Gene |
UniProtKB-ID:
TTC37_HUMAN
UniprotKB:
Q6PGP7
UniParc:
UPI00000709BD
EMBL:
BC056893,
AB002370,
BC015163
Ensembl:
ENSG00000198677
KO:
hsa:9652
|
| Nucleutide sequences |
EMBL-CDS:
AAH56893.1,
BAA20827.2,
AAH15163.1
Ensembl_TRS:
ENST00000649566,
ENST00000358746
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000351596,
ENSP00000497948
RefSeq:
NP_055454.1
|
| Others |
UniRef100:
UniRef100_Q6PGP7
UniRef90:
UniRef90_Q6PGP7
UniRef50:
UniRef50_Q6PGP7
UniGene:
Hs.482868
CCDS:
CCDS4072.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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