Alt. symbols: CHS1 | CHS

Approved name: lysosomal trafficking regulator
Alt. names: Chediak-Higashi syndrome 1

Location: 1q42.3: 235661041 - 235883724 (-)
Gene type: protein_coding, 30 transcripts.

Scores: LoFtool: 0.601000 | pLI: 0.99997842 | LOEUF: 0.307

HGNC: 1968

NCBI: 1130, RefSeq: NG_007397.1

Ensembl: ENSG00000143669.16

LRG_143 | Status: public

OMIM: 606897

Expression | ProteinAtlas

The LYST gene encodes a protein known as the lysosomal trafficking regulator. It is thought that this protein is involved in the trafficking of materials into the lysosomes. Although the lysosomal trafficking regulator protein is involved in the normal function of lysosomes, its exact role is unknown. Some studies suggest that this protein may help determine the size of lysosomes and regulate their movement within cells.

Certain biallelic mutations in LYST may cause autosomal recessive Chediak-Higashi syndrome (CHS) [MIM:214500]. These mutations impair the normal function of the lysosomal trafficking regulator protein, which disrupts the size, structure, and function of lysosomes and related structures within cells. Individuals with this syndrome display abnormally large lysosomes that interfere with normal cell functions. For example, enlarged lysosomes in certain immune system cells prevent these cells from re sponding appropriately to bacteria and other foreign invaders. As a result, the malfunctioning immune system cannot protect the body from severe, recurrent infections. Mutations that result in a complete loss of protein function are associated with a more severe, childhood-onset form of CHS; however, some missense mutations are associated with a milder, adult version of this disease, because the altered protein retains a partial function. In the melanocytes of these patients, melanosomes are abnormally large and melanin is trapped within these giant melanosomes and is thus unable to contribute to skin, hair, and eye pigmentation, which is why people with CHS have oculocutaneous albinism. It is thought that abnormal lysosome-like structures inside platelets underlie the abnormal bruising and bleeding seen in CHS patients. Similarly, abnormal lysosomes in nerve cells probably cause the neurological problems associated with this disease. More than 50 pathogenic mutations in the gene are considered pathogenic, and 40 of them are predicted LOF (frameshift, nonsense) mutations. [Load More]