DDHD1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DDHD1 (HGNC:19714) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- DDHD domain containing 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SPG28
- Alias symbols
- KIAA1705, PA-PLA1, iPLA1alpha, PAPLA1, iPLA1α
- %HI
- 40.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.9(Read more about gnomAD pLI score)
- LOEUF
- 0.34(Read more about gnomAD LOEUF score)
- Cytoband
- 14q22.1
- Genomic Coordinates
-
GRCh37/hg19: chr14:53503473-53620041 NCBI Ensembl UCSC GRCh38/hg38: chr14:53036755-53153323 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001160148.2 ENST00000673822.2 (Read more about MANE Select)
- Function
- Phospholipase A1 (PLA1) that hydrolyzes ester bonds at the sn-1 position of glycerophospholipids producing a free fatty acid and a lysophospholipid (PubMed:20359546, PubMed:22922100) (Probable). Prefers phosphatidate (1,2-diacyl-sn-glycero-3-phosphate, PA) as substrate in vitro, but can efficiently hydrolyze phosphatidylinositol (1,2-diacyl- sn-glycero-3-phospho-(1D-myo-inositol), PI), as well as a range of other glycerophospholipid substrates such as phosphatidylcholine (1,2- diacyl-sn-glycero-... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33362
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/25/2014
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hereditary spastic paraplegia 28 Monarch
HI Evidence Comments:
Variants in DDHD1 have been associated with spastic paraplegia 28 (OMIM: 614603), an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)