OCRL

From Wikipedia, the free encyclopedia
Jump to: navigation, search
OCRL
PDB 2qv2 EBI.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases OCRL, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase
External IDs OMIM: 300535 HomoloGene: 233 GeneCards: OCRL
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000276
NM_001587
NM_001318784

n/a

RefSeq (protein)

NP_000267
NP_001305713
NP_001578

n/a

Location (UCSC) Chr X: 129.54 – 129.59 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human View/Edit Mouse

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.[2]

This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.[2]

Mutation in this gene are associated with oculocerebrorenal syndrome[3] and also with Dent's disease.[4][5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ a b "Entrez Gene: oculocerebrorenal syndrome of Lowe". 
  3. ^ 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. 
  4. ^ Online Mendelian Inheritance in Man (OMIM) 300555
  5. ^ 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 1196371Freely accessible. PMID 15627218. 

Further reading[edit]

External links[edit]