| Type | Description |
|---|---|
| Definition | tubulin folding cofactor D |
| Date | Results | Publications |
|---|---|---|
| 2019-03-09 10:44:00 | We present a detailed description of the neuropathology and MR imaging characteristics of a subset of these patients, adding insight into the phenotype of TBCD-related encephalopathy. The finding of a Faroese founder variant will allow targeted genetic diagnostics in patients of Faroese descent as well as improved genetic counseling and testing of at-risk couples. | 29921875 |
| 2019-03-02 12:02:00 | Study identified a homozygous novel pathogenic missense mutation (c.1423G > A;p.Ala475Thr) in TBCD gene to be associated with concurrent hypofibrinogenemia and cortical atrophy. | 29769041 |
| 2018-05-19 10:38:00 | TBCD protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic. | 28583220 |
| 2018-01-20 11:50:00 | Authors conclude that TBCD is a novel functional contributor to the mammalian cerebral cortex development, and that the pathological mechanism resulting from the mutations we describe is likely to involve compromised interactions with one or more TBCD-interacting effectors that influence the dynamics and behaviour of the neuronal cytoskeleton. | 28158450 |
| 2017-12-02 10:54:00 | conclude that the TBCD*ARL2*beta-tubulin complex represents a functional intermediate in the beta-tubulin folding pathway whose activity is regulated by the cycling of nucleotides on ARL2 | 28970104 |
| Type | IDs |
|---|---|
| Synonymous | PEBAT, SSD-1, tfcD |
| Gene |
UniProtKB-ID:
TBCD_HUMAN
UniprotKB:
Q9BTW9
UniParc:
UPI00015DFBD1,
UPI000020053F,
UPI0001D14797,
UPI00004C3DAE,
UPI0000688153
EMBL:
AL096745,
AC087222,
BC003094,
AB023205,
AK091959,
AF193042,
AJ006417,
BC012824,
BC039654,
AC130371,
AC024361,
AC068014,
AC068584,
AL133562
Ensembl:
ENSG00000141556
KO:
hsa:6904
|
| Nucleutide sequences |
EMBL-CDS:
AAH39654.1,
BAA76832.2,
AAH12824.2,
CAB63716.1,
CAB62532.2,
AAH03094.1,
CAA07022.1,
BAC03777.1,
AAG22470.1
Gene_ORFName:
PP1096
Ensembl_TRS:
ENST00000355528
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000347719
RefSeq:
XP_006722353.1,
XP_024306667.1,
XP_016880478.1,
XP_016880476.1,
XP_016880479.1,
NP_005984.3,
XP_005256453.1,
XP_024306669.1,
XP_011521891.1,
XP_024306670.1,
XP_006722354.1,
XP_006722355.1,
XP_011521895.1,
XP_005256461.1,
XP_011521896.1,
XP_016880477.1,
XP_011521892.1,
XP_011521900.1,
XP_005256456.1,
XP_024306668.1,
XP_011521902.1,
XP_011521893.1,
XP_011521897.1,
XP_011521899.1,
XP_011521901.1
|
| Others |
UniRef100:
UniRef100_Q9BTW9
UniRef90:
UniRef90_Q9BTW9
UniRef50:
UniRef50_Q9BTW9
UniGene:
Hs.464391
CCDS:
CCDS45818.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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