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- Table of Contents
Facts about Neurobeachin-like protein 2.
.
Human | |
---|---|
Gene Name: | NBEAL2 |
Uniprot: | Q6ZNJ1 |
Entrez: | 23218 |
Belongs to: |
---|
WD repeat neurobeachin family |
Neurobeachin-like protein 2
Mass (kDA):
302.517 kDA
Human | |
---|---|
Location: | 3p21.31 |
Sequence: | 3; NC_000003.12 (46979666..47009704) |
Expressed in megakaryocytes.
Endoplasmic reticulum.
PMID: 21765412 by Gunay-Aygun M., et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules.
PMID: 21765411 by Albers C.A., et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.