AP3B1 Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

AP3B1 Details

Gene Symbol : AP3B1

Gene Name : Adaptor related protein complex 3 beta 1 subunit

Chromosome : CHR 5: 782,947,54-780,023,25

Locus : 5q14.1

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LHFPL2 Summary

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

LHFPL2 Details

Gene Symbol : LHFPL2

Gene Name : LHFPL tetraspan subfamily member 2

Chromosome : CHR 5: 786,488,94-784,852,14

Locus : 5q14.1

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