SMS - spermine synthase Gene

Also Known as SRS; SpS; MRSR; SPMSY; MRXSSR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6611

About 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.

Summary

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 Products (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 Protein Structure

Spermine_synth

0
100
200
300
366 a.a.

Protein Preferred Names	Protein Names
spermine synthase	spermidine aminopropyltransferase

SMS Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82298	Spermine Synthase Antibody (YA2043)	WB	Human
HY-P82298A	Spermine Synthase Antibody (YA2043)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0036	Octreotide		99.96%	Unkown
HY-17365	Octreotide acetate	Agonist	99.93%	Unkown
HY-P0036B	Octreotide pamoate		/	Unkown

Pre-clinical Phase

Bioactive Molecules (22)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-163541	SMS121	Inhibitor	99.06%	Unkown
HY-114307	Ly93	Inhibitor	99.85%	Unkown
HY-N8518	Malabaricone C		99.46%	Unkown
HY-102041	SMS2-IN-1	Inhibitor	98.00%	Unkown
HY-135642	SMS1-IN-1	Inhibitor	98.38%	Unkown
HY-19625	MCB-613	Inducer	99.64%	Unkown
HY-112713	SMS2-IN-2	Inhibitor	98.0%	Unkown
HY-171160	WYFA-15	Inhibitor	98.77%	Unkown
HY-165136	Sphingomyelins, milk		99.20%	Unkown
HY-RS13454	SMS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-139995	Spermine Prodrug-1		/	Unkown
HY-150559	SMS2-IN-3	Inhibitor	/	Unkown
HY-157730	2-Myristyldistearin		/	Unkown
HY-P0036A	Octreotide dihydrochloride		/	Unkown
HY-RS11624	RAI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181568	PROTAC Aurora A Degrader-1		/	Unkown
HY-P0036S2	Octreotide-d8		/	Unkown
HY-P0036S3	Octreotide-13C9,15N		/	Unkown
HY-P0036S4	Octreotide-d8 acetate		/	Unkown
HY-RS17402	Sms Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23857	Sms Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P0036S	Octreotide-d8 TFA		/	Unkown

Orthologs Information

Species	Symbol	Source	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