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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)