LEMD2 gene

LEM domain containing 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]

From UniProt:

Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).

Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling.

From NCBI Gene:

  • Cataract Hutterite type

From UniProt:

Cataract 46, juvenile-onset (CTRCT46): A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. [MIM:212500]

Cytogenetic Location: 6p21.31, which is the short (p) arm of chromosome 6 at position 21.31

Molecular Location: base pairs 33,771,213 to 33,794,274 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.31, which is the short (p) arm of chromosome 6 at position 21.31
  • CTRCT42
  • dJ482C21.1
  • NET25