CRPPA - CDP-L-ribitol pyrophosphorylase A Gene

Also Known as Nip; ISPD; hISPD; MDDGA7; MDDGC7; LGMDR20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 729920

About CRPPA

Cytogenetic location: 7p21.2 Genomic coordinates (GRCh38): 7:16,087,525-16,421,538 (from NCBI)

This gene has 6 transcripts (splice variants), 196 orthologues and is associated with 6 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

CRPPA Products (3)

mRNA	Protein	Name
NM_001101417.4	NP_001094887.1	D-ribitol-5-phosphate cytidylyltransferase isoform b
NM_001101426.4	NP_001094896.1	D-ribitol-5-phosphate cytidylyltransferase isoform a
NM_001368197.1	NP_001355126.1	D-ribitol-5-phosphate cytidylyltransferase isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables D-ribitol-5-phosphate cytidylyltransferase activity	IDA IDA: Inferred from direct assay	26687144	GOA
enables cytidylyltransferase activity	IDA IDA: Inferred from direct assay	26687144	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	26687144	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	22522420	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytosol	IDA IDA: Inferred from direct assay	26687144	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRPPA Protein Structure

IspD

0
100
200
300
400
451 a.a.

Protein Preferred Names	Protein Names
D-ribitol-5-phosphate cytidylyltransferase	2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein

Related Diseases

Diseases	Alias
Muscular Dystrophy-Dystroglycanopathy , Type C, 7	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Lgmd2u MDDGC7 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20 Lgmdr20 Muscular Dystrophy, Limb-Girdle, Type 2u Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency Muscular Dystrophy Limb-Girdle Type 2u Muscular Dystrophy-Dystroglycanopathy Type C7 Ispd-Related Limb-Girdle Muscular Dystrophy R20 Ispd-Related Lgmd R20 Lgmd Type 2u Limb-Girdle Muscular Dystrophy Type 2u Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7 Dystrophy, Muscular, Dystroglycanopathy, Type C7
Muscular Dystrophy-Dystroglycanopathy , Type A, 7	MDDGA7 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Ispd-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A7 Muscle-Eye-Brain Disease Ispd-Related Walker-Warburg Syndrome Ispd-Related
Congenital Muscular Dystrophy-Dystroglycanopathy A7	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A7 Mddga7 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Ispd-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A7
Congenital Muscular Dystrophy Without Intellectual Disability	Cmd Without Intellectual Disability Cmd-No Mr Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency Muscular Dystrophy, Congenital, Due To Itga7 Deficiency Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency Congenital Muscular Dystrophy With Itga7 Deficiency Congenital Myopathy Due To Integrin Alpha-7 Deficiency Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency MDCI Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular Dystrophy-Dystroglycanopathy	Cmd Due To Dystroglycanopathy Congenital Muscular Dystrophy Due To Dystroglycanopathy Mddg Dystrophy, Muscular, Dystroglycanopathy
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy-Dystroglycanopathy , Type A, 8	MDDGA8 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Gtdc2-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A8 Muscle-Eye-Brain Disease Gtdc2-Related Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 8 Walker-Warburg Syndrome Gtdc2-Related
Cobblestone Lissencephaly	Lissencephaly Type 2 Lissencephaly, Cobblestone
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Histrionic Personality Disorder
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A10 Mddga10 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Tmem5-Related
Muscular Dystrophy-Dystroglycanopathy , Type B, 6	Muscular Dystrophy-Dystroglycanopathy Type B6 MDDGB6 Mdc1d Muscular Dystrophy, Congenital, Type 1d Congenital Muscular Dystrophy Type 1d Dystrophy, Muscular, Dystroglycanopathy , Type B6 Muscular Dystrophy, Congenital, Large-Related Congenital Muscular Dystrophy Large-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6 Muscular Dystrophy Large-Related
Muscle Eye Brain Disease	Muscle-Eye-Brain Disease Muscle-Eye-Brain Syndrome Meb Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3 Meb Syndrome Santavuori Congenital Muscular Dystrophy
Brazilian Hemorrhagic Fever	Sabia Hemorrhagic Fever
Muscular Dystrophy-Dystroglycanopathy , Type C, 1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k Lgmd2k MDDGC1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11 Lgmdr11 Muscular Dystrophy, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome Limb-Girdle Muscular Dystrophy Type 2k Muscular Dystrophy Limb-Girdle Type 2k Muscular Dystrophy-Dystroglycanopathy Type C 1 Pomt1-Related Limb-Girdle Muscular Dystrophy R11 Lgmd Type 2k Pomt1-Related Lgmd R11 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 Dystrophy, Muscular, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	EMARDD Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Muscular Dystrophy, Congenital, 1b	MDC1B Congenital Muscular Dystrophy 1b Cmd1b Congenital Muscular Dystrophy Type 1b Familial Dilated Cardiomyopathy
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscular Dystrophy-Dystroglycanopathy , Type C, 3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o MDDGC3 Lgmd2o Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 Lgmdr15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related Muscular Dystrophy, Limb-Girdle, Type 2o Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type C3 Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 Lgmd Type 2o Limb-Girdle Muscular Dystrophy Type 2o Pomgnt1-Related Lgmd R15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 Dystrophy, Muscular, Limb-Girdle, Type 2o
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03196	CRPPA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CRPPA	VGNC	VGNC:30303
Macaca mulatta	CRPPA	VGNC	VGNC:81296
Felis catus	CRPPA	VGNC	VGNC:78433
Canis familiaris	CRPPA	VGNC	VGNC:42114
Rattus norvegicus	CRPPA	RGD	RGD:1359368
Mus musculus	CRPPA	MGD	MGI:1923097
Others	CRPPA	NCBI