rs147071939

This variant is located in the LMAN1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters

Factor V and factor VIII, combined deficiency of, type 1; Inborn genetic diseases

About LMAN1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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