X-Nico

unusual facts about Chromosome 12



Congenital distal spinal muscular atrophy

The TRPV4 (transient receptor potential vanilloid 4) gene, located on chromosome 12, encodes for a protein that serves as an ion channel, typically found in the plasma membrane and is permeable to Ca2+.


see also

HOTAIR

It is shuttled from chromosome 12 to chromosome 2 by the Suz-Twelve protein.

Hypergammaglobulinemia

Immunodeficiency with hyper IgM type 2 is caused by a mutation in the Activation-Induced Cytidine Deaminase (AICDA) gene, which is located on the short arm of chromosome 12.

Immunodeficiency with hyper IgM type 5 is caused by a mutation in the Uracil-DNA glycosylase (UNG) gene, which, like AICDA, is located on chromosome 12.