NIPA1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NIPA1 (HGNC:17043) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NIPA magnesium transporter 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SPG6
Alias symbols
MGC35570, SLC57A1
%HI
22(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.27(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
15q11.2
Genomic Coordinates
GRCh37/hg19: chr15:23043279-23086843 NCBI Ensembl UCSC
GRCh38/hg38: chr15:22786225-22829789 NCBI Ensembl UCSC
MANE Select Transcript
NM_144599.5 ENST00000337435.9 (Read more about MANE Select)
Function
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Zn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). {ECO:0000250|UniProtKB:Q8BHK1}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2387
ClinGen Curation ID:
CCID:007554
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
04/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Missense mutations in NIPA1 have been associated with Spastic paraplegia-6 (OMIM 600363). Martinez-Lage et al. (2012) PMID:22302102 summarizes these findings. Zhao et al. (2010) PMID:19091982 suggest gain of function as mechanism.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)