Official symbol | GBA |
Gene id | 2629 |
Organism | Homo sapiens |
Official full symbol | glucosylceramidase beta |
Gene type | protein-coding |
Also known as | GBA1, GCB, GLUC |
Summary | This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
GBA-201 | ENST00000327247.9 | 2387 | 536aa | Protein coding | CCDS1102 | P04062-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
GBA-202 | ENST00000368373.8 | 2291 | 536aa | Protein coding | CCDS1102 | P04062-1 | NM_000157.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
GBA-203 | ENST00000427500.7 | 2063 | 487aa | Protein coding | CCDS53374 | P04062-5 | - | TSL:2, GENCODE basic, |
GBA-204 | ENST00000428024.3 | 1817 | 449aa | Protein coding | CCDS53373 | P04062-4 | - | TSL:2, GENCODE basic, |
GBA-213 | ENST00000493842.5 | 1020 | No protein | Processed transcript | - | - | - | TSL:5, |
GBA-210 | ENST00000478472.1 | 1005 | No protein | Processed transcript | - | - | - | TSL:3, |
GBA-212 | ENST00000491081.5 | 892 | No protein | Processed transcript | - | - | - | TSL:2, |
GBA-209 | ENST00000473570.5 | 862 | No protein | Processed transcript | - | - | - | TSL:5, |
GBA-205 | ENST00000460156.1 | 750 | No protein | Processed transcript | - | - | - | TSL:2, |
GBA-211 | ENST00000484489.5 | 749 | No protein | Processed transcript | - | - | - | TSL:5, |
GBA-214 | ENST00000497670.5 | 696 | No protein | Processed transcript | - | - | - | TSL:5, |
GBA-207 | ENST00000467918.5 | 625 | No protein | Processed transcript | - | - | - | TSL:5, |
GBA-206 | ENST00000464536.1 | 559 | No protein | Processed transcript | - | - | - | TSL:2, |
GBA-208 | ENST00000470104.1 | 487 | No protein | Processed transcript | - | - | - | TSL:3, |
Target Gene | GBA |
This KO Strategy | loading |
Red Cotton™ Notes | Gene GBA had been KO in hela cell line. |
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