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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2224
|
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Farnesyl diphosphate synthase |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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FDPS |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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FPPS, FPS, POROK9 |
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Chromosome
Chromosome number
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1 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q22 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholester |
| UniProt ID |
P14324
|
| Protein name |
Farnesyl pyrophosphate synthase (FPP synthase) (FPS) (EC 2.5.1.10) ((2E,6E)-farnesyl diphosphate synthase) (Dimethylallyltranstransferase) (EC 2.5.1.1) (Farnesyl diphosphate synthase) (Geranyltranstransferase) |
| Protein function |
Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate |
| PDB |
1YQ7
,
1YV5
,
1ZW5
,
2F7M
,
2F89
,
2F8C
,
2F8Z
,
2F92
,
2F94
,
2F9K
,
2OPM
,
2OPN
,
2QIS
,
2RAH
,
2VF6
,
3B7L
,
3CP6
,
3N1V
,
3N1W
,
3N3L
,
3N45
,
3N46
,
3N49
,
3N5H
,
3N5J
,
3N6K
,
3RYE
,
3S4J
,
4DEM
,
4GA3
,
4H5C
,
4H5D
,
4H5E
,
4JVJ
,
4KFA
,
4KPD
,
4KPJ
,
4KQ5
,
4KQS
,
4KQU
,
4L2X
,
4LFV
,
4LPG
,
4LPH
,
4N1Z
,
4N9U
,
4NFI
,
4NFJ
,
4NFK
,
4NG6
,
4NKE
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
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PF00348
|
polyprenyl_synt |
108 → 374 |
Polyprenyl synthetase |
Domain |
|
| Sequence |
|
| Sequence length |
419 |
| Interactions |
View interactions
|
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Porokeratosis |
porokeratosis 9, multiple types |
rs863225241, rs769193201 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Carpal Tunnel Syndrome |
Carpal tunnel syndrome |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Disseminated Superficial Actinic Porokeratosis |
disseminated superficial actinic porokeratosis |
N/A |
N/A |
GenCC |
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