2. Gene
  3. LSS - lanosterol synthase Gene

LSS - lanosterol synthase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：羊毛甾醇合酶

种属: Homo sapiens

同用名: OSC; APMR4; HYPT14; CTRCT44

基因 ID: 4047 | 基因类型: protein coding

关于 LSS

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,188,446-46,228,774 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 199 orthologues and is associated with 7 phenotypes. Ubiquitous expression in skin (RPKM 17.0), lung (RPKM 14.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质催化 (S) -2,3 氧化角鲨烯转化为羊毛甾醇。编码的蛋白质是萜烯环化酶/变位酶家族的一员，催化胆固醇、类固醇激素和维生素 D 生物合成的第一步。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2009 年 2 月]

The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of Cholesterol, steroid Hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

LSS 基因产物(4)

mRNA Protein Name
NM_001001438.3 NP_001001438.1 lanosterol synthase isoform 1
NM_001145436.2 NP_001138908.1 lanosterol synthase isoform 2
NM_001145437.2 NP_001138909.1 lanosterol synthase isoform 3
NM_002340.6 NP_002331.3 lanosterol synthase isoform 1

LSS 蛋白结构

Prenyltrans

Prenyltrans: Prenyltransferase and squalene oxidase repeat (123 - 165)

SQHop_cyclase_N

SQHop_cyclase_N: Squalene-hopene cyclase N-terminal domain (565 - 687)

  • 0
  • 200
  • 400
  • 600
  • 732 a.a.
蛋白主名 其他名称

lanosterol synthase

2,3-epoxysqualene-lanosterol cyclase

重组 LSS 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72309 Lanosterol synthase/LSS Protein, Human (P.pastoris, His) P48449 (T2-P732) ≥95%

关联疾病

疾病名称 别名
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Hypotrichosis 14

HYPT14
Alopecia-Intellectual Disability Syndrome 4

Alopecia-Mental Retardation Syndrome 4

APMR4
Alopecia-Mental Retardation Syndrome 1

APMR1

Alopecia-Intellectual Disability Syndrome 1

Amr Syndrome

Alopecia-Intellectual Disability Syndrome

Amr Syndrome 1

Alopecia With Severe Intellectual Deficit

Apmr

Alopecia Intellectual Disbility Syndrome 1

Perniola-Krajewska-Carnevale Syndrome

Alopecia - Intellectual Disability Syndrome

Alopecia With Mental Retardation Syndrome 1

Perniola Krajewska Carnevale Syndrome
Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs
Alopecia
Hypotrichosis
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]
Alopecia-Mental Retardation Syndrome
Spondylolisthesis

Slipped Vertebrae

Acquired Spondylolisthesis
Frontometaphyseal Dysplasia 1

FMD1

Fmd
Severe Congenital Neutropenia 2

Scn2
Candida Glabrata

Torulopsis Glabrata
Spondylolysis

Acquired Spondylolysis
Frontometaphyseal Dysplasia 2

FMD2
Cauda Equina Syndrome

Cauda Equina

Polyradiculopathy
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Dependent Personality Disorder
Palmoplantar Keratoderma And Congenital Alopecia 2

Cataract-Alopecia-Sclerodactyly Syndrome

Cass

Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia

PPKCA2

Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type

Ppk-Ca, Wallis Type

Cataract, Alopecia, Sclerodactyly

Ppkca, Wallis Type

Ppkca Wallis Type

Cataract, Alopecia, Sclerodactyly Syndrome
Bone Deterioration Disease
Bardet-Biedl Syndrome 8

BBS8

Bardet-Biedl Syndrome, Type 8
Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp
Spondylosis

Lumbar Spondylosis With Myelopathy

Lumbosacral Spondylosis Without Myelopathy

Spondylogenic Compression Of Lumbar Spinal Cord

Spondylogenic Compression Of Thoracic Spinal Cord

Spondylosis With Myelopathy

Thoracic Or Lumbar Spondylosis With Myelopathy
Diffuse Idiopathic Skeletal Hyperostosis

Hyperostosis, Diffuse Idiopathic Skeletal

Ankylosing Vertebral Hyperostosis

Dish

Disseminated Idiopathic Skeletal Hyperostosis

Forestier Disease

Forestier'S Disease

Hyperostosis Diffuse Idiopathic Skeletal
Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract
Bone Structure Disease
Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal
Dysgraphia

Agraphia
Pituitary Adenoma 2, Growth Hormone-Secreting

PITA2

Acromegaly Due To Pituitary Adenoma 2

Acromegaly, X-Linked

Growth Hormone Secreting Pituitary Adenoma 2

Pituitary Adenoma, Growth Hormone-Secreting, 2

Pituitary Adenoma 2, Gh-Secreting

Gh-Secreting Pituitary Adenoma 2

X-Linked Acromegaly

Adenoma, Pituitary, Growth Hormone-Secreting, Type 2
Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder

Opsd

Fronto-Otopalatodigital Osteodysplasia
Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07866 LSS Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus LSS MGD MGI:1336155
Felis catus LSS VGNC VGNC:68097
Canis familiaris LSS VGNC VGNC:42851
Rattus norvegicus LSS RGD RGD:620955
Bos taurus LSS VGNC VGNC:31065
Macaca mulatta LSS VGNC VGNC:74451
Others LSS NCBI
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