OCRL

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Oculocerebrorenal syndrome of Lowe
PDB 2qv2 EBI.png
PDB rendering based on 2qv2.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols OCRL ; INPP5F; LOCR; NPHL2; OCRL-1; OCRL1
External IDs OMIM300535 MGI109589 HomoloGene233 GeneCards: OCRL Gene
EC number 3.1.3.36
Orthologs
Species Human Mouse
Entrez 4952 320634
Ensembl ENSG00000122126 ENSMUSG00000001173
UniProt Q01968 Q6NVF0
RefSeq (mRNA) NM_000276 NM_177215
RefSeq (protein) NP_000267 NP_796189
Location (UCSC) Chr X:
128.67 – 128.73 Mb
Chr X:
47.91 – 47.97 Mb
PubMed search [1] [2]

Inositol polyphosphate 5-phosphatase OCRL-1 (INPP5F), also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.[1]

This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.[1]

Mutation in this gene are associated with oculocerebrorenal syndrome[2] and also with Dent's disease.[3][4]

References[edit]

  1. ^ a b "Entrez Gene: oculocerebrorenal syndrome of Lowe". 
  2. ^ Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes". Am. J. Med. Genet. 77 (5): 348–55. doi:10.1002/(SICI)1096-8628(19980605)77:5<348::AID-AJMG2>3.0.CO;2-J. PMID 9632163. 
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 300555
  4. ^ Hoopes RR, Shrimpton AE, Knohl SJ, et al. (February 2005). "Dent Disease with mutations in OCRL1". Am. J. Hum. Genet. 76 (2): 260–7. doi:10.1086/427887. PMC 1196371. PMID 15627218. 

Further reading[edit]

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