LMAN1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LMAN1 (HGNC:6631) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- lectin, mannose binding 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- F5F8D
- Alias symbols
- MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1
- %HI
- 36.45(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.55(Read more about gnomAD LOEUF score)
- Cytoband
- 18q21.32
- Genomic Coordinates
-
GRCh37/hg19: chr18:56995055-57026497 NCBI Ensembl UCSC GRCh38/hg38: chr18:59327823-59359265 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005570.4 ENST00000251047.6 (Read more about MANE Select)
- Function
- Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:13130098}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24853
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- factor V and factor VIII, combined deficiency of, type 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)