" /> DYNC2H1 wt Allele - CISMeF





Preferred Label : DYNC2H1 wt Allele;

NCIt synonyms : Dynein, Cytoplasmic, Heavy Polypeptide 2 Gene; DHC1B; SRPS2B; DHC2; Dynein Heavy Chain, Isotype 1B Gene; HDHC11; ATD3; DNCH2; SRTD3; DYH1B; Dynein Cytoplasmic 2 Heavy Chain 1 wt Allele; KIAA1997; Dynein, Cytoplasmic 2, Heavy Chain 1 Gene;

NCIt definition : Human DYNC2H1 wild-type allele is located in the vicinity of 11q22.3 and is approximately 370 kb in length. This allele, which encodes cytoplasmic dynein 2 heavy chain protein, is involved in intraflagellar retrograde transport and cilia formation. Mutations in the gene are associated with short-rib thoracic dysplasia 3 with or without polydactyly.;

GenBank Accession Number : AB082528;

Détails


Position du mot-clé dans l'(les) arborescence(s) : arborescence

Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.