FAM222A
Description
The FAM222A (family with sequence similarity 222 member A) is a protein-coding gene located on chromosome 12.
FAM222A, also known as Aggregatin, is a protein of unknown function. It is encoded by the gene FAM222A in humans and is implicated in Alzheimer's disease. FAM222A, also known as C12orf34, is located on chromosome 12 at position q24.11 and spans 56,672 base pairs. Its mRNA is 3,685 base pairs long with a coding region of 1,359 base pairs. FAM222A is highly expressed in the brain and spinal cord, with lower expression in the cerebellum, pituitary gland, adrenal gland, and testis. It has three different splice variants of mRNA, with the most common being 3,685 base pairs long and having a coding region of 1,359 base pairs. This mRNA consists of three exons and has two different isoforms in humans.
FAM222A is also known as C12orf34.
Associated Diseases
- hypoparathyroidism, familial isolated, 2
- pseudohypoparathyroidism type 2
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
