Gene: RLIM

Alternate names for this Gene: MRX61|NY-REN-43|RNF12|TOKAS

Gene Summary: The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.2

Description of this Gene: ring finger protein, LIM domain interacting

Type of Gene: protein-coding

rs786205133 in RLIM gene and Autistic Disorder PMID 25735484 2015 Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

rs786205133 in RLIM gene and Mental Retardation, X-Linked Nonsyndromic PMID 25735484 2015 Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

rs786205133 in RLIM gene and Severe feeding problems PMID 25735484 2015 Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.