Description

oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:HGNC:8108]

Synonyms

OCRL1

Location

Chromosome X: 129,539,849-129,592,561 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 4 transcripts (splice variants), 74 orthologues, 8 paralogues, is a member of 1 Ensembl protein family and is associated with 6 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OCRL-001ENST000003711135162901aaENSP00000360154
 
Protein coding
CCDS35393Q01968 NM_000276
NP_000267
TSL:1GENCODE basicAPPRIS P1
OCRL-002ENST000003571215138893aaENSP00000349635
 
Protein coding
CCDS35394Q01968 NM_001587
NP_001578
TSL:1GENCODE basic
OCRL-003ENST00000486673942No protein-
 
Processed transcript
---TSL:5
OCRL-005ENST00000463271856No protein-
 
Processed transcript
---TSL:2

Gene-based displays