MYOD1 Chromosome 11

Myogenic differentiation 1

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Basic helix-loop-helix proteins|Myogenic regulatory family"

Locus Type

gene with protein product

Location

11p15.1

Ensembl

ENSG00000129152

Associated Conditions (7)

Arthrogryposis multiplex congenita

Autosomal dominant centronuclear myopathy

Myopathy

congenital

with diaphragmatic defects

respiratory insufficiency

and dysmorphic facies

Key Variants

RS1179926739

Pathogenic

Arthrogryposis multiplex congenita, Autosomal dominant centronuclear myopathy, Myopathy

Health Risk

RS147517396

Pathogenic

Myopathy, congenital, with diaphragmatic defects

Health Risk

RS768652299

Pathogenic

Myopathy, congenital, with diaphragmatic defects

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1179926739	Health Risk	Pathogenic	Arthrogryposis multiplex congenita, Autosomal dominant centronuclear myopathy, Myopathy
RS147517396	Health Risk	Pathogenic	Myopathy, congenital, with diaphragmatic defects
RS768652299	Health Risk	Pathogenic	Myopathy, congenital, with diaphragmatic defects