Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

PAFAH1B1

Gene Alias

LIS1, LIS2, MDCR, MDS, PAFAH

Gene Description

platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa

Omim ID

Gene Ontology

Gene Summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq

Other Designations

Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit|lissencephaly 1 protein|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit

Entrez GeneID

Gene Name

RARA

Gene Alias

NR1B1, RAR

Gene Description

retinoic acid receptor, alpha

Omim ID

Gene Ontology

Gene Summary

Retinoid signaling is transduced by 2 families of nuclear receptors, retinoic acid receptor (RAR) and retinoid X receptor (RXR; see MIM 180245), which form RXR/RAR heterodimers. In the absence of ligand, DNA-bound RXR/RARA represses transcription by recruiting the corepressors NCOR1 (MIM 600849), SMRT (NCOR2; MIM 600848), and histone deacetylase (see MIM 601241). When ligand binds to the complex, it induces a conformational change allowing the recruitment of coactivators, histone acetyltransferases (see MIM 603053), and the basic transcription machinery. Translocations that always involve rearrangement of the RARA gene are a cardinal feature of acute promyelocytic leukemia (APL; MIM 612376). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (MIM 102578) (Vitoux et al., 2007 [PubMed 17468032]).[supplied by OMIM

Other Designations

OTTHUMP00000164454|OTTHUMP00000164456|Retinoic acid receptor, alpha polypeptide|nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form