ZNF513

zinc finger protein 513

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

From NCBI Gene:

The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

From UniProt:

Transcriptional regulator that plays a role in retinal development and maintenance.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 58

From UniProt:

Retinitis pigmentosa 58 (RP58): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:613617]

Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3

Molecular Location: base pairs 27,377,231 to 27,380,866 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3
  • HMFT0656
  • RP58