A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification.

Journal article

Cystatin M/E (CST6 ), a new member of the cystatin gene family, has a restricted expression pattern in humans, which is largely limited to cutaneous epithelia. Although cystatin M/E possesses two distinct biochemical properties, being a cysteine proteinase inhibitor and a substrate for transglutaminase, its physiological function is unknown. Here we report the isolation and characterization of the mouse Cst6 orthologue and the assignment of the chromosomal localization to the proximal end of ...

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Authors: Zeeuwen, P; van Vlijmen-Willems, I; Hendriks, W; Merkx, G; Schalkwijk, J

• Journal: Human molecular genetics
• Volume: 11
• Issue: 23
• Pages: 2867-2875
• Publication date: 2002-11-01
• DOI: 10.1093/hmg/11.23.2867
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Mice, Inbred BALB C; Epidermis; Male; Base Sequence; Cystatin M; Molecular Sequence Data; Female; Crosses, Genetic; Immunoenzyme Techniques; Embryonic and Fetal Development; Codon, Nonsense; Hair Follicle; Sequence Homology, Amino Acid; Amino Acid Sequence; Genes, Lethal; Cystatins; Disease Models, Animal; Ichthyosis, Lamellar; Mice; Animals; Chromosome Mapping; Chromosomes