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| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C2829592
http://purl.bioontology.org/ontology/MEDLINEPLUS/C2829592
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|---|---|
| Preferred Name | CDP-L-ribitol pyrophosphorylase A |
| Definitions |
The CRPPA gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the CRPPA protein helps produce a molecule called ribitol 5-phosphate, which is an important component of the chain of sugar molecules added to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.~The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
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| Synonyms |
notch1-induced protein
MDDGA7
4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
hCG_1745121
2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
isoprenoid synthase domain containing
Nip
isoprenoid synthase domain-containing protein
CRPPA
IspD
ISPD_HUMAN
ISPD
See more
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The CRPPA gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the CRPPA protein helps produce a molecule called ribitol 5-phosphate, which is an important component of the chain of sugar molecules added to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.~The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development. |
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| altLabel |
notch1-induced protein
MDDGA7
4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
hCG_1745121
2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
isoprenoid synthase domain containing
Nip
isoprenoid synthase domain-containing protein
CRPPA
IspD
ISPD_HUMAN
ISPD
See more
See less
|
| prefLabel | CDP-L-ribitol pyrophosphorylase A
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| DB XR ID | NCBI Gene:729920~OMIM:614631
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| Has associated condition | |
| type | |
| tui | T028
|
| notation | C2829592
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| Semantic type UMLS property | |
| cui | C2829592
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