GBA
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene[2]
- Chromosome
- human chromosome 1[17]
- Cytogenetic location
- 1q22[25]
- Encodes
- Glucosylceramidase beta[15]
- Expressed in
- stromal cell of endometrium, islet of Langerhans, placenta, blood, pituitary gland, anterior pituitary, bone marrow cell, right adrenal gland, right adrenal cortex, left adrenal gland[26][27][28][29][30]
- Found in taxon
- Homo sapiens[16]
- Genetic association
- Gaucher's disease, Parkinson's disease, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher's disease type I, Gaucher's disease type II, Gaucher's disease type III[18][19][20][21][22][23]
- HomoloGene ID
- 68040[3]
- Strand orientation
- reverse strand[24]
🏷️ Also known as
en GBA
en GBA1
en GCB
en GLUC
en Glucocerebrosidase
en glucosylceramidase beta
fa گلوکوسربروزیداز
he גלוקוצרברוזידאז
ja グルコセレブロシダーゼ
🔖 Identifiers · 10
- Encyclopædia Britannica Online ID
- science/glucocerebrosidase
- Ensembl gene ID
- ENSG00000262446, ENSG00000177628
- Ensembl transcript ID
- ENST00000327247, ENST00000368373, ENST00000427500, ENST00000428024, ENST00000460156, ENST00000464536, ENST00000467918, ENST00000470104, ENST00000473570, ENST00000478472, ENST00000484489, ENST00000491081, ENST00000493842, ENST00000497670, ENST00000570491, ENST00000618489, ENST00000572338, ENST00000575321, ENST00000573812, ENST00000573492, ENST00000571863, ENST00000574670, ENST00000571897, ENST00000576421, ENST00000570868, ENST00000573998, ENST00000576759, ENST00000574935, ENST00000570340, ENST00000613861
- Entrez Gene ID
- 2629
- Exact match
- identifiers.org
- HGNC ID
- 4177
- HGNC gene symbol
- GBA
- OMIM ID
- 606463
- RefSeq RNA ID
- NM_000157, NM_001005741, NM_001005742, NM_001005749, NM_001005750, NM_001171811, NM_001171812
- UMLS CUI
- C1414998
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Summary
GBA is a gene[1].