LHFPL1 - LHFPL tetraspan subfamily member 1 Gene

中文名称：LHFPL 四跨亚科成员 1

种属: Homo sapiens

关于 LHFPL1

功能概要

该基因是脂肪瘤 HMGIC 融合伴侣 (LHFP) 基因家族的成员，该家族是四跨膜蛋白编码基因超家族的一个子集。一个 LHFP 样基因的突变导致人类和小鼠耳聋，第二个 LHFP 样基因与易位相关脂肪瘤中的高迁移率基因融合。已发现可变剪接的转录本变体，但尚未确定其生物学有效性。[RefSeq 提供，2008 年 7 月]

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]