2334774355ENSG00000101596ENSMUSG00000024054A6NHR9Q6P5D8NM_015295NM_028887NP_056110NP_083163Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1) is a protein that in humans is encoded by the SMCHD1 gene.

[5][6] Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2)[7] and Bosma arhinia microphthalmia syndrome (BAMS).

[8][9] Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.

[10][11] This article on a gene on human chromosome 18 is a stub.

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