1. Gene
  2. CRPPA - CDP-L-ribitol pyrophosphorylase A Gene

CRPPA - CDP-L-ribitol pyrophosphorylase A Gene

Homo sapiens

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

Gene ID: 729920 | Gene type: protein coding

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

CRPPA Protein Structure

IspD

IspD: 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase (47 - 278)

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  • 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

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