Dymeclin is a
protein that in humans is encoded by the DYMgene.[5]
This gene encodes a protein which is necessary for normal skeletal development and
brain function and has been first described and named in 2003.[6] Mutations in this gene are associated with two types of recessive
osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC)
syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.[5]
^El Ghouzzi, V. (2003-02-01). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Human Molecular Genetics. 12 (3). Oxford University Press (OUP): 357–364.
doi:
10.1093/hmg/ddg029.
ISSN1460-2083.
PMID12554689.
Further reading
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Dymeclin is a
protein that in humans is encoded by the DYMgene.[5]
This gene encodes a protein which is necessary for normal skeletal development and
brain function and has been first described and named in 2003.[6] Mutations in this gene are associated with two types of recessive
osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC)
syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.[5]
^El Ghouzzi, V. (2003-02-01). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Human Molecular Genetics. 12 (3). Oxford University Press (OUP): 357–364.
doi:
10.1093/hmg/ddg029.
ISSN1460-2083.
PMID12554689.
Further reading
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.