SMCHD1 wt Allele

Preferred Label : SMCHD1 wt Allele;

NCIt synonyms : Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 wt Allele; KIAA0650; BAMS; FSHD2;

NCIt definition : Human SMCHD1 wild-type allele is located in the vicinity of 18p11.32 and is approximately 149 kb in length. This allele, which encodes structural maintenance of chromosomes flexible hinge domain-containing protein 1, plays a role in heterochromatin formation, DNA repair, epigenetic silencing and ATPase activity. Mutations in the gene are associated with Bosma arhinia microphthalmia syndrome and digenic facioscapulohumeral muscular dystrophy 2.;

GenBank Accession Number : AB014550;

Details

Origin ID

C207969;

OMIM relation
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 18p11.32 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Chromatin Structural Process [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Epigenetic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Nonhomologous DNA End Joining [NCIt concept]
- X-Chromosome Inactivation [NCIt concept]

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