2. Gene
  3. SMS - spermine synthase Gene

SMS - spermine synthase Gene

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

中文名称：精胺合酶

种属: Homo sapiens

同用名: SRS; SpS; MRSR; SPMSY; MRXSSR

基因 ID: 6611 | 基因类型: protein coding

关于 SMS

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:21,940,709-21,994,837 (from NCBI)

This gene has 4 transcripts (splice variants), 241 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 40.6), placenta (RPKM 32.9) and 24 other tissues.

功能概要

该基因编码属于亚精胺/精蛋白合酶家族的蛋白质，并催化亚精胺产生精胺。该基因的假基因位于 1 号、5 号、6 号和 X 号染色体上。该基因的突变会导致 X 连锁智力障碍，称为 Snyder-Robinson 综合症 (SRS) 。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 7 月]

This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

SMS 基因产物(2)

mRNA Protein Name
NM_001258423.2 NP_001245352.1 spermine synthase isoform 2
NM_004595.5 NP_004586.2 spermine synthase isoform 1

SMS 蛋白结构

Spermine_synth

Spermine_synth: Spermine/spermidine synthase domain (127 - 364)

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
蛋白主名 其他名称

spermine synthase

spermidine aminopropyltransferase

SMS 抗体

目录号 产品名 应用 反应物种
HY-P82298 Spermine Synthase Antibody (YA2043) WB Human

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type

MRXSSR

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Srs

Snyder-Robinson Mental Retardation Syndrome

Intellectual Developmental Disorder, X-Linked Syndromic, Snyder-Robinson Type

X-Linked Intellectual Disability, Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type
Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type

Spermine Synthase Deficiency

Srs

Snyder-Robinson Mental Retardation Syndrome

X-Linked Intellectual Disability Snyder-Robinson Type

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Snyder-Robinson X-Linked Mental Retardation Syndrome
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Serous Labyrinthitis

Acute Serous Labyrinthitis
Microcephaly 1, Primary, Autosomal Recessive

MCPH1

Premature Chromosome Condensation Syndrome

Pcc Syndrome

Primary Autosomal Recessive Microcephaly 1

Microcephaly, Primary Autosomal Recessive, 1

Premature Chromosome Condensation With Microcephaly And Mental Retardation

Microcephaly Vera

True Microcephaly

Microcephaly, Type 1, Primary, Autosomal Recessive

Autosomal Recessive Primary Microcephaly
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability
Secondary Progressive Multiple Sclerosis

Secondary-Progressive Ms

Spms

Multiple Sclerosis, Chronic Progressive

Chronic Progressive Multiple Sclerosis

Multiple Sclerosis, Secondary Progressive
Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome
Syndromic Intellectual Disability
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

Approval
生物活性分子 (3)
目录号 产品名 作用方式
纯度 是否罕见病
HY-P0036 Octreotide 99.87% 否
HY-17365 Octreotide acetate Agonist 99.97% 否
HY-P0036B Octreotide pamoate / 否
Pre-clinical Phase
生物活性分子 (19)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-163541 SMS121 Inhibitor 98.75% 否
HY-114307 Ly93 Inhibitor 99.85% 否
HY-N8518 Malabaricone C 99.61% 否
HY-102041 SMS2-IN-1 Inhibitor 98.04% 否
HY-19625 MCB-613 Inducer 99.95% 否
HY-135642 SMS1-IN-1 Inhibitor 99.44% 否
HY-112713 SMS2-IN-2 Inhibitor ≥98.0% 否
HY-165136 Sphingomyelins, milk 99.20% 否
HY-RS13454 SMS Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-171160 WYFA-15 Inhibitor 98.77% 否
HY-139995 Spermine Prodrug-1 / 否
HY-150559 SMS2-IN-3 Inhibitor / 否
HY-157730 2-Myristyldistearin / 否
HY-RS11624 RAI1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-P0036S2 Octreotide-d8 / 否
HY-P0036S3 Octreotide-13C9,15N / 否
HY-P0036S4 Octreotide-d8 acetate / 否
HY-RS17402 Sms Mouse Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS23857 Sms Rat Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SMS VGNC VGNC:35035
Macaca mulatta SMS VGNC VGNC:77660
Felis catus SMS VGNC VGNC:97636
Canis familiaris SMS VGNC VGNC:54603
Rattus norvegicus SMS RGD RGD:1564826
Mus musculus SMS MGD MGI:109490
Others SMS NCBI
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