RecName: Full=D-ribitol-5-phosphate cytidylyltransferase; AltName: Ful - Protein

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A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. [Clin Genet. 2020]
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X, Toda T, et al. Clin Genet. 2020 May; 97(5):789-790. Epub 2020 Jan 7.
Recent advancements in understanding mammalian O-mannosylation. [Glycobiology. 2017]
Recent advancements in understanding mammalian O-mannosylation.
Sheikh MO, Halmo SM, Wells L. Glycobiology. 2017 Sep 1; 27(9):806-819.
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. [BMC Neurol. 2015]
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, et al. BMC Neurol. 2015 Sep 24; 15:172. Epub 2015 Sep 24.

RefSeq genomic sequence
See the genomic reference sequence for the CRPPA gene (NG_032690.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the CRPPA gene.

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A4D126 [Domain Mapping of Disease Mut...]
A4D126
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=D-ribitol-5-phosphate cytidylyltransferase; AltName: Full=2-C-meth...
RecName: Full=D-ribitol-5-phosphate cytidylyltransferase; AltName: Full=2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; AltName: Full=Isoprenoid synthase domain-containing protein; Short=hISPD
gi|205831245|sp|A4D126.2|ISPD_HUMAN

Protein
AGENCOURT_13647644 NIH_MGC_187 Homo sapiens cDNA clone IMAGE:30321113 5', mRNA s...
AGENCOURT_13647644 NIH_MGC_187 Homo sapiens cDNA clone IMAGE:30321113 5', mRNA sequence
gi|30293146|gnl|dbEST|17782678|gb|C 26.1|

Nucleotide
Abdominal wall mass
Abdominal wall mass

MedGen

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Protein