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- Table of Contents
Facts about B9 domain-containing protein 1.
. .
Human | |
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Gene Name: | B9D1 |
Uniprot: | Q9UPM9 |
Entrez: | 27077 |
Belongs to: |
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B9D family |
B9 domain-containing protein 1; B9 protein domain 1; B9; endothelial precursor protein B9; EPPB9; MKS1-related protein 1; MKSR1
Mass (kDA):
22.775 kDA
Human | |
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Location: | 17p11.2 |
Sequence: | 17; NC_000017.11 (19334695..19377913, complement) |
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
PMID: 19208769 by Bialas N.J., et al. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
PMID: 21493627 by Hopp K., et al. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.