| Type | Description |
|---|---|
| Definition | limb development membrane protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 10:15:00 | Results identify a novel g.101779T>A variant segregating with all individuals affected with preaxial polydactyly type 1(PPDI). | 31395945 |
| 2017-01-14 10:15:00 | These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1 | 26749485 |
| 2015-04-04 10:07:00 | A novel ZRS mutation found in the Mexican population, 402C>T, suggests that a dosage effect exists for this mutation. | 24777739 |
| 2014-12-20 13:19:00 | Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene. | 24478176 |
| 2014-06-07 12:22:00 | Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome. | 23793141 |
| Type | IDs |
|---|---|
| Synonymous | ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS |
| Gene |
UniProtKB-ID:
LMBR1_HUMAN
UniprotKB:
Q8WVP7
UniParc:
UPI000006E905,
UPI00006A77F5,
UPI000005340E
EMBL:
AL834394,
AC005534,
AF402318,
AK021727,
AC007097,
AK026940,
CH236954,
BC017663,
CH471149,
AC007075,
AF348513
Ensembl:
ENSG00000105983
KO:
hsa:64327
|
| Nucleutide sequences |
EMBL-CDS:
AAF03516.1,
BAB15595.1,
AAD43188.1,
CAD39056.1,
AAH17663.1,
BAB13880.1,
EAX04559.1,
EAL23920.1,
AAK94061.1,
AAK31345.1
Ensembl_TRS:
ENST00000353442
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000326604
RefSeq:
NP_001350339.1,
NP_001337887.1,
NP_001350340.1,
NP_001337882.1,
NP_001350342.1,
XP_016868004.1,
NP_001337883.1,
NP_001337885.1,
NP_001350341.1,
NP_001350338.1,
NP_001337886.1,
XP_005249615.1,
NP_071903.2,
NP_001337884.1
|
| Others |
UniRef100:
UniRef100_Q8WVP7
UniRef90:
UniRef90_Q8WVP7
UniRef50:
UniRef50_Q8WVP7
UniGene:
Hs.209989
CCDS:
CCDS5945.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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