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- Table of Contents
Facts about Protocadherin-19.
Human | |
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Gene Name: | PCDH19 |
Uniprot: | Q8TAB3 |
Entrez: | 57526 |
Belongs to: |
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No superfamily |
EFMR; EIEE9; PCDH19; Protocadherin19; Protocadherin-19
Mass (kDA):
126.253 kDA
Human | |
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Location: | Xq22.1 |
Sequence: | X; NC_000023.11 (100291644..100410273, complement) |
Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.
Cell membrane; Single-pass type I membrane protein.
PMID: 18469813 by Dibbens L.M., et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
PMID: 11549318 by Wolverton T., et al. Identification and characterization of three members of a novel subclass of protocadherins.