Skip to main content
. Author manuscript; available in PMC: 2015 Jun 26.
Published in final edited form as: J Diabetes Obes. 2015 Feb 27;2(1):10.15436/2376-0494.15.007. doi: 10.15436/2376-0494.15.007

Figure 1.

Figure 1

The human NPC1 chromosomal locus and structure of the NPC1 protein. (A) The human NPC1 chromosomal locus is positioned on chromosome 18 at cytogenetic band 18q11.2. (B) Structure of the human NPC1 protein. The NPC1 alleles and encoded NPC1 residues previously reported to be associated with increased risk for morbid-adult obesity (ancestral and major alleles for 644A>G and 2572A>G encoding the H215R and I858V residues, respectively) and type 2 diabetes independent of obesity (ancestral and minor allele for 1926C>G encoding I642M residues) are indicated in red print. An NPC1 polymorphism and encoded residues (3797G>A encoding R1266Q) serve as a negative control in assessing association of the risk alleles and encoded residues for metabolic disease phenotypes. The structure of the human NPC1 protein used in this figure was adopted from JP Davies and YA Ioannou (2000) J Biol Chem 275:24367–24374 and modified by including the NPC1 alleles and encoded residues.