DISEASES

Disease-gene associations mined from literature

Literature associating STOML1 and overhydrated hereditary stomatocytosis

STOML1 [ENSP00000442478]

Stomatin-related protein; May play a role in cholesterol transfer to late endosomes. May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation; Belongs to the band 7/mec-2 family.

Synonyms:  STOML1,  STOML1p,  hSTOML1,  H3BPC1,  H3BQA9 ...

Linkouts:  STRING  Pharos  UniProt