CPT1A |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CPT1A (HGNC:2328) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- carnitine palmitoyltransferase 1A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CPT1
- Alias symbols
- CPT1-L, L-CPT1
- %HI
- 54.76(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.71(Read more about gnomAD LOEUF score)
- Cytoband
- 11q13.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:68522088-68609384 NCBI Ensembl UCSC GRCh38/hg38: chr11:68754620-68844277 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001876.4 ENST00000265641.10 (Read more about MANE Select)
- Function
- Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (PubMed:9691089, PubMed:11350182, PubMed:14517221, PubMed:16651524). Plays an important role in hepatic triglyceride metabolism (By similarity). {ECO:0000250|UniProtKB:P32198, ECO:0000269|PubMed:11350182, ECO:0000269|PubMed:14517221, ECO:0000269|PubMed:16651524, ECO:000026... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15011
ClinGen Curation ID:
CCID:006929
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- carnitine palmitoyl transferase 1A deficiency Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)