DISEASES

Disease-gene associations mined from literature

Literature associating ATCAY and Marinesco-Sjogren syndrome

ATCAY [ENSP00000390941]

Caytaxin; Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites.

Synonyms:  ATCAY,  A0A0S2Z5T8,  M0R197,  M0R225,  Q86WG3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM