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- Table of Contents
Facts about von Willebrand factor A domain-containing protein 3B.
Human | |
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Gene Name: | VWA3B |
Uniprot: | Q502W6 |
Entrez: | 200403 |
Belongs to: |
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No superfamily |
von Willebrand factor A domain-containing protein 3B
Mass (kDA):
145.748 kDA
Human | |
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Location: | 2q11.2 |
Sequence: | 2; NC_000002.12 (98087167..98330682) |
Cytoplasm.
PMID: 26157035 by Kawarai T., et al. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
PMID: 26566883 by Rafiullah R., et al. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.