PITPNA |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PITPNA (HGNC:9001) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphatidylinositol transfer protein alpha
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PITPN
- Alias symbols
- VIB1A
- %HI
- 9.09(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.33(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:1421012-1466086 NCBI Ensembl UCSC GRCh38/hg38: chr17:1517718-1562792 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006224.4 ENST00000313486.12 (Read more about MANE Select)
- Function
- Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes (PubMed:10531358, PubMed:22822086, PubMed:15522822, PubMed:18636990, PubMed:14962392). Shows a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions (PubMed:15522822, PubMed:22822086). Preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3 (PubMed:22822086). {ECO:0000269... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-14293
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/07/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)