1. Gene
  2. LGSN - lengsin, lens protein with glutamine synthetase domain Gene

LGSN - lengsin, lens protein with glutamine synthetase domain Gene

中文名称:lengsin,具有谷氨酰胺合成酶结构域的晶状体蛋白

种属: Homo sapiens

同用名: LGS; GLULD1

基因 ID: 51557 | 基因类型: protein coding

关于 LGSN

Cytogenetic location: 6q12 Genomic coordinates (GRCh38): 6:63,275,951-63,573,607 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues and 1 paralogue. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质与谷氨酰胺合成酶超家族的 GS I 成员相似。编码的蛋白质被称为假谷氨酰胺合成酶,因为它没有谷氨酰胺合成活性,可以作为伴侣蛋白发挥作用。这种蛋白质定位于晶状体,可能与白内障疾病有关。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 1 月]

This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

LGSN 基因产物(2)

mRNA Protein Name
NM_001143940.2 NP_001137412.1 lengsin isoform b
NM_016571.3 NP_057655.2 lengsin isoform a

LGSN 蛋白结构

Gln-synt_N

Gln-synt_N: Glutamine synthetase, beta-Grasp domain (87 - 174)

Gln-synt_C

Gln-synt_C: Glutamine synthetase, catalytic domain (182 - 427)

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  • 509 a.a.
蛋白主名 其他名称

lengsin

glutamate-ammonia ligase (glutamine synthase) domain containing 1

关联疾病

疾病名称 别名
Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta LGSN VGNC VGNC:74093
Felis catus LGSN VGNC VGNC:63221
Rattus norvegicus LGSN RGD RGD:727925
Canis familiaris LGSN VGNC VGNC:42656
Bos taurus LGSN VGNC VGNC:30863
Mus musculus LGSN MGD MGI:2672844