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- Table of Contents
Facts about PDZ domain-containing protein 7.
.
| Human | |
|---|---|
| Gene Name: | PDZD7 |
| Uniprot: | Q9H5P4 |
| Entrez: | 79955 |

| Belongs to: |
|---|
| No superfamily |

PDZ domain-containing protein 7
Mass (kDA):
111.752 kDA

| Human | |
|---|---|
| Location: | 10q24.31 |
| Sequence: | 10; NC_000010.11 (101007679..101031157, complement) |
Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium.
Cell projection, cilium. Nucleus. Cell projection, stereocilium. Localizes at the ankle region of the stereocilia.



PMID: 20440071 by Ebermann I., et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
PMID: 19028668 by Schneider E., et al. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.