| Type | Description |
|---|---|
| Definition | CDP-L-ribitol pyrophosphorylase A |
| Date | Results | Publications |
|---|---|---|
| 2018-09-22 11:53:00 | ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. | 27194101 |
| 2016-05-28 12:16:00 | data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized. | 26404900 |
| 2016-04-30 10:42:00 | ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family. | 26087224 |
| 2016-03-26 10:27:00 | Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC. | 26220087 |
| 2015-10-17 11:43:00 | study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD) /early limb-girdle muscular dystrophy intermediate phenotype and CMD respectively | 25444434 |
| Type | IDs |
|---|---|
| Synonymous | ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD |
| Gene |
UniProtKB-ID:
ISPD_HUMAN,
A0A140VJM1_HUMAN
UniprotKB:
A4D126,
A0A140VJM1
UniParc:
UPI0000EE435E,
UPI00015CFC06
EMBL:
AC073629,
AC006035,
CH471073,
HM005410,
CH236948,
AC079155,
AC004741
Ensembl:
ENSG00000214960
KO:
hsa:729920
|
| Nucleutide sequences |
EMBL-CDS:
EAL24288.1,
EAW93668.1,
AEE61008.1
Ensembl_TRS:
ENST00000399310,
ENST00000407010
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385478,
ENSP00000382249
RefSeq:
NP_001094896.1,
NP_001355126.1,
NP_001094887.1
|
| Others |
UniRef100:
UniRef100_A4D126,
UniRef100_A0A140VJM1
UniRef90:
UniRef90_A4D126
UniRef50:
UniRef50_A4D126
UniGene:
Hs.636502
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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