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FLASH GENE

Symbol

CHKB

contributors: mct - updated : 20-10-2012

HGNC name	choline kinase beta
HGNC id	1938

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ANIMAL & CELL MODELS

	spontaneously occurring genomic deletion in murine Chkb results in neonatal bone deformity and hindlimb muscular dystrophy
	loss-of-function mutation in the murine ortholog, Chkb, is reported to cause rostrocaudal muscular dystrophy (rmd), with abnormal mitochondrial morphology in rmd skeletal muscles that reflects altered phosphatidylcholine content in mitochondrial membranes, and selective autophagic elimination of mitochondria