PDZD7 gene

PDZ domain containing 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

From NCBI Gene:

  • Usher syndrome, type 2A
  • Usher syndrome, type 2C

From UniProt:

Usher syndrome 2C (USH2C): USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. [MIM:605472]

A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11).

Cytogenetic Location: 10q24.31, which is the long (q) arm of chromosome 10 at position 24.31

Molecular Location: base pairs 101,007,683 to 101,031,157 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q24.31, which is the long (q) arm of chromosome 10 at position 24.31
  • DFNB57
  • PDZK7