LMAN1 Chromosome 18
Lectin, mannose binding 1
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What This Gene Does
The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]
Associated Conditions (6)
Factor V and factor VIII
combined deficiency of
type 1
LMAN1-related disorder
Factor V deficiency
Hereditary factor VIII deficiency disease
Key Variants
RS149932943
Conflicting classifications of pathogenicity
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS200829791
Conflicting classifications of pathogenicity
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS374176132
Conflicting classifications of pathogenicity
Factor V deficiency, Hereditary factor VIII deficiency disease, Factor V and factor VIII
Health Risk
RS377676111
Conflicting classifications of pathogenicity
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS547944681
Conflicting classifications of pathogenicity
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS183873209
Likely pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS2511517010
Likely pathogenic
Health Risk
RS1006524651
Pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS121909253
Pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS869312030
Pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS869312031
Pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS869312032
Pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149932943 | Health Risk | Conflicting classifications of pathogenicity | Factor V and factor VIII, combined deficiency of, type 1 |
| RS200829791 | Health Risk | Conflicting classifications of pathogenicity | Factor V and factor VIII, combined deficiency of, type 1 |
| RS374176132 | Health Risk | Conflicting classifications of pathogenicity | Factor V deficiency, Hereditary factor VIII deficiency disease, Factor V and factor VIII |
| RS377676111 | Health Risk | Conflicting classifications of pathogenicity | Factor V and factor VIII, combined deficiency of, type 1 |
| RS547944681 | Health Risk | Conflicting classifications of pathogenicity | Factor V and factor VIII, combined deficiency of, type 1 |
| RS183873209 | Health Risk | Likely pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS2511517010 | Health Risk | Likely pathogenic | — |
| RS1006524651 | Health Risk | Pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS121909253 | Health Risk | Pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS869312030 | Health Risk | Pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS869312031 | Health Risk | Pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS869312032 | Health Risk | Pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS869312033 | Health Risk | Pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |