Disease-gene associations mined from literature

Literature associating ARL6IP1 and hereditary spastic paraplegia 61

ARL6IP1 [ENSP00000306788]

Apoptotic regulator in the membrane of the endoplasmic reticulum; Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules. Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself. May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation.

Synonyms:  ARL6IP1,  ARL6IP1p,  hARL6IP1,  A0A024QYV7,  F5GXP4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM