Lower expression associated with the STD/STD genotype in blood. Three exons (out of a total of 4) of this gene are shared with the long isoform of gene CRHR1, and it is possible that MGC57346 corresponds to a different splice form of the same gene
Increased expression associated to STD/STD genotype in cerebellum
+ Inversion phenotypical effects
In the Icelandic population, women that carry the INV allele have on average 0.0907 more children than noncarriers (P=0.0068), assuming a dominant effect for the INV allele. The effect of the INV allele in men is an increase of 0.0679 in the average number of children (P=0.0719). With both sexes combined, a carrier of the INV allele is estimated to have 0.0796 more children than a noncarrier (P=0.0025).
H2 haplotypes (INV alleles) predispose to the 17q21.31 microdeletion syndrome. In Europeans, a 155-kb duplication fixed in the inverted chromosomes that generates directly oriented segmental duplications, can cause a deletion of approximately 600 kb by NAHR. This deletion encompasses part of the inverted segment and includes genes like MAPT and CRHR1.