SGSH |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SGSH (HGNC:10818) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- N-sulfoglucosamine sulfohydrolase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- HSS, MPS3A, SFMD
- %HI
- 69.12(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.8(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:78183075-78194132 NCBI Ensembl UCSC GRCh38/hg38: chr17:80200673-80220333 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000199.5 ENST00000326317.11 (Read more about MANE Select)
- Function
- Catalyzes a step in lysosomal heparan sulfate degradation. {ECO:0000269|PubMed:15146460, ECO:0000269|PubMed:24816101, ECO:0000269|PubMed:7493035}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-37135
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/12/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- mucopolysaccharidosis type 3A Monarch
HI Evidence Comments:
Variants in SGSH have been reported in association with Mucopolysaccharidosis type IIIA (Sanfillipo syndrome type A), an autosomal recessive condition.
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)