Structural 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]
Keratin 12 is a protein that in humans is encoded by the KRT12 gene. It's a type I keratin.
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, and muscles of other areas usually are affected, especially those of the chest, abdomen, spine, and shin. Almost any skeletal muscle can be affected in advanced disease. Abnormally positioned, termed 'winged', scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15–30 years. FSHD can also cause hearing loss and blood vessel abnormalities at the back of the eye.
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.
Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.
Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD gene, located on chromosome 9q31. Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex.
Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1) also known as receptor-interacting factor 1 (RIF1) is a protein that in humans is encoded by the LRIF1 gene.
The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1.
Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.
Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.
Protein FRG1 is an actin-bundling protein that in humans is encoded by the FRG1 gene.
PORCN is a human gene. The protein is homologous to other membrane-bound O-acyltransferases.
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.
Bosma arhinia microphthalmia ayndrome' (BAMS), Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, or just Bosma syndrome is a rare genetic disorder characterized by nasal and ocular abnormalities, often accompanied by endocrine dysfunction.
 | This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it. |
 | This protein-related article is a stub. You can help Wikipedia by expanding it. |
