| Gene Symbol |
GBA2
|
| Entrez Gene |
57704
|
| Alt Symbol |
AD035, NLGase, SPG46
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
glucosidase, beta (bile acid) 2
|
| Other Description |
beta-glucocerebrosidase 2|glucosylceramidase 2|non-lysosomal glucosylceramidase
|
| Swissprots |
D3DRP2 Q96LY1 Q96A51 Q9H2L8 Q96SJ2 Q5TCV6 Q9HCG7
|
| Accessions |
EAW58345 EAW58346 EAW58347 EAW58348 EAW58349 Q9HCG7 AB046825 BAB13431 AF258662 AAG44660 AJ309567 CAC83792 AK027884 BAB55430 AK057610 AK295967 BAH12232 AK297435 BAG59862 AL834306 CAD38976 BC011363 AAH11363 XM_005251526 XP_005251583 XM_006716809 XP_006716872 XM_011517969 XP_011516271 XM_011517970 XP_011516272 XM_011517971 XP_011516273 XM_011517972 XP_011516274 XM_011517973 XP_011516275 XM_011517974 XP_011516276 XM_011517975 XP_011516277 XM_011517976 XP_011516278 XM_011517977 XP_011516279 XM_011517978 XP_011516280 XM_011517979 XP_011516281 NM_020944 NP_065995
|
| Function |
Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons. {ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:23332916}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Not localized to lipid rafts. {ECO:0000269|PubMed:17105727}.
|
| Tissue Specificity |
Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver. {ECO:0000269|PubMed:11489889}.
|
| Top Pathways |
Sphingolipid metabolism, Other glycan degradation
|