🧬 基因注释：LHFPL1
📝 官方信息
官方名称：LHFPL tetraspan subfamily member 1
功能摘要：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].
🏥 关联疾病
该基因暂无关联疾病记录