Gene Symbol | ZNF513 |
Entrez Gene ID | 130557 |
Full Name | zinc finger protein 513 |
Synonyms | HMFT0656,RP58 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Retinitis pigmentosa 58, 613617 (3) |