LOC283335
What is Loc283335?
Loc283335 is a gene located on chromosome 22q13.31. It encodes a protein of unknown function that is thought to play a role in DNA repair. Mutations in this gene have been linked to a variety of disorders, including:
- Alopecia areata
- Ataxia-telangiectasia
- Dyskeratosis congenita
- Fanconi anemia
- Werner syndrome
Associated Diseases
- Alopecia areata is an autoimmune disorder that causes hair loss. It is thought to be caused by an attack on the hair follicles by the body's own immune system.
- Ataxia-telangiectasia is a rare genetic disorder that affects the nervous system and immune system. It is caused by a mutation in the ATM gene, which is responsible for repairing damaged DNA.
- Dyskeratosis congenita is a rare genetic disorder that affects the skin, nails, and mucous membranes. It is caused by a mutation in one of several genes that are involved in telomere maintenance. Telomeres are the protective caps on the ends of chromosomes that prevent them from fraying.
- Fanconi anemia is a rare genetic disorder that affects the bone marrow. It is caused by a mutation in one of several genes that are involved in DNA repair.
- Werner syndrome is a rare genetic disorder that causes premature aging. It is caused by a mutation in the WRN gene, which is involved in repairing damaged DNA.
Did you Know ?
Mutations in the loc283335 gene are thought to be responsible for about 1% of cases of alopecia areata.
