lines, and stroma of normal co
lon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). Expressed in heart and skeletal muscle, but not in liver, spleen, or pancreas.
DISEASE : Corneal dystrophy, posterior polymorphous, 3 (PPCD3) [MIM:609141]: A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. Note=The disease is caused by mutations affecting the gene represented in this entry.
Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity : Belo
ngs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
Co
ntains 7 C2H2-type zinc fingers.
Co
ntains 1 homeobox DNA-binding domain.
Databa
se l
inks :
UniProtKB/Swiss-Prot: P37275.2
Entrez Gene: 396029 Chicken
Entrez Gene: 535183 Cow
Entrez Gene: 6935 Human
人侵袭性脉络膜黑色素瘤细胞;MuM-2C操作步骤Entrez Gene: 21417 Mouse
Entrez Gene: 25705 Rat
Omim: 189909 Human