Gene Symbol | CRPPA |
Entrez Gene ID | 729920 |
Full Name | isoprenoid synthase domain containing |
Synonyms | MDDGA7,MDDGC7,Nip,hCG_1745121,hISPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3) |