Entity Details
Details
PrimaryID | 1120 |
RefseqGene | NG_012643 |
Symbol | CHKB |
Name | choline kinase beta |
Chromosome | 22 |
Location | 22q13.33 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 1998-08-27 |
ModificationDate | 2021-06-11 |
Diseases
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Disease ID | Source | Name | Description |
602541 | OMIM | Muscular dystrophy, congenital, megaconial type (MDCMC) | An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction