Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
J. Clin. Invest. Liesbeth Van Wesenbeeck, et al. 117:919 doi:10.1172/JCI30328 [Go to this article.]

Figure 1
The Plekhm1 gene and protein. (A) Genomic structure of the rat plekhm1 gene and the ia mutation. The plekhm1 gene consists of 12 exons (boxes) with the start codon located in exon 2. In ia rats, 1 cytosine (located in a stretch of 6 cytosines, underlined) is deleted in exon 5 of the plekhm1 gene. This results in a frameshift mutation followed by 5 divergent amino acids and a stop codon (asterisk). (B) Domain structure of the Plekhm1 protein. The Plekhm1 protein consists of a RUN domain, 2 PH domains, and a cysteine-rich (CYS) domain. The positions of the ia and human mutations are indicated.