| Type | Description |
|---|---|
| Definition | intraflagellar transport 172 |
| Date | Results | Publications |
|---|---|---|
| 2019-02-16 12:14:00 | We found that depletion of IFT172 in rod photoreceptors leads to a rapid degeneration of the retina, with severely reduced electroretinography (ERG) responses by 1 month and complete outer-nuclear layer (ONL) degeneration by 2 months | 29659833 |
| 2017-04-08 11:58:00 | This is the second report of IFT172 mutations in BBS patients validating IFT172 as the twentieth BBS gene (BBS20). | 26763875 |
| 2015-08-29 10:47:00 | Findings identified mutations in IFT172 that lead to a recessive form of non-syndromic retinitis pigmentosa and Bardet-Biedl syndrome and suggest that the primary IFT172 mutations alone are not sufficient to explain the wide range of phenotypes. | 25168386 |
| 2014-01-04 10:06:00 | We have identified defects in IFT172 as a cause of complex asphyxiating thoracic dystrophy and Mainzer-Saldino syndrome. | 24140113 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim |
| Gene |
UniProtKB-ID:
IF172_HUMAN
UniprotKB:
Q9UG01
UniParc:
UPI000170BA40,
UPI0001565738,
UPI0000353ABB
EMBL:
BC137126,
BC008024,
CH471053,
BC142729,
AB033005,
AC074117,
BC142675,
AL117421,
AL110218,
BC047294
Ensembl:
ENSG00000138002
KO:
hsa:26160
|
| Nucleutide sequences |
EMBL-CDS:
CAB53678.1,
AAI42676.1,
AAI37127.1,
CAB55914.2,
AAH47294.1,
AAI42730.1,
EAX00573.1,
BAA86493.1,
AAH08024.1
Ensembl_TRS:
ENST00000359466,
ENST00000260570
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000352443,
ENSP00000260570
RefSeq:
XP_011531060.1,
XP_005264311.1,
XP_016859284.1,
XP_011531059.1,
XP_011531061.1,
XP_016859283.1,
XP_006712049.1,
XP_016859279.1,
XP_006712050.1,
XP_011531062.1,
XP_016859282.1,
XP_016859280.1,
NP_056477.1,
XP_016859281.1
|
| Others |
UniRef100:
UniRef100_Q9UG01
UniRef90:
UniRef90_Q9UG01
UniRef50:
UniRef50_Q6VH22
UniGene:
Hs.127401
CCDS:
CCDS1755.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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