• 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)