PTDSS1 - phosphatidylserine synthase 1 Gene

Homo sapiens

Also known as LMHD; PSS1; PSSA

Gene ID: 9791 | Gene type: protein coding

About PTDSS1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:96,261,902-96,336,995 (from NCBI)

This gene has 6 transcripts (splice variants), 271 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 35.2), placenta (RPKM 27.0) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

PTDSS1 Products(2)

mRNA	Protein	Name
NM_001290225.2	NP_001277154.1	phosphatidylserine synthase 1 isoform 2
NM_014754.3	NP_055569.1	phosphatidylserine synthase 1 isoform 1

PTDSS1 Protein Structure

PSS

0
100
200
300
400
473 a.a.

Protein Preferred Names

Protein Names

phosphatidylserine synthase 1

PSS-1

Related Diseases

Diseases

Alias

Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome	Lenz Majewski Hyperostotic Dwarfism
LMHD	Hyperostotic Dwarfism Lenz-Majewski Type
Lenz-Majewski Hyperostotic Dysplasia	Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis
Lms

Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	SMDCRD
Smd-Crd	Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy

Slate Pneumoconiosis

Schistosis

Hyperostosis

Hypertrophy Of Bone	Bone Hypertrophy
Bone Thickening	Periosteum Thickening

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome	PHARC
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Peripheral Neuropathy, Fiskerstrand Type	Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract

Calvarial Doughnut Lesions With Bone Fragility

Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia	Calvarial Doughnut Lesions-Bone Fragility Syndrome
CDL	Doughnut Lesions Of Skull, Familial
Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia	Familial Doughnut Lesions Of Skull
CDLSMD

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF	Spondylometaphyseal Dysplasia, Sutcliffe Type
Spondylometaphyseal Dysplasia Corner Fracture Type	Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia Sutcliffe Type	Sutcliffe Type Of Spondylometaphyseal Dysplasia
Spondylometaphyseal Dysplasia - Sutcliffe Type	Smd, Corner Fractures Type
Smd, Sutcliffe Type	Sutcliffe Smd
Dysplasia, Spondylometaphyseal, Corner Fracture Type

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome	SRTD6
Srps2a	Short Rib-Polydactyly Syndrome, Majewski Type
Polydactyly With Neonatal Chondrodystrophy, Type Ii	Short Rib-Polydactyly Syndrome Type Iia
Short Rib-Polydactyly Syndrome Type 2	Short Rib-Polydactyly Syndrome Type Ii
Short Rib-Polydactyly Syndrome, Type Ii	Srps, Type Ii
Short Rib-Polydactyly Syndrome, Type Iia	Polydactyly With Neonatal Chondrodystrophy Type 2
Srps Type 2	Short Rib-Polydactyly Syndrome Majewski Type
Polydactyly With Neonatal Chondrodystrophy Type Ii	Short Rib-Polydactyly Syndrome 2a
Srps Type Ii

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-158145	DS55980254	Inhibitor	/	Unkown
HY-RS11361	PTDSS1 Human Pre-designed siRNA Set A		/	Unkown
HY-157562	PTDSS1-IN-1		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PTDSS1	VGNC	VGNC:45136
Rattus norvegicus	PTDSS1	RGD	RGD:1308949
Mus musculus	PTDSS1	MGD	MGI:1276575
Macaca mulatta	PTDSS1	VGNC	VGNC:76465
Bos taurus	PTDSS1	VGNC	VGNC:33495
Felis catus	PTDSS1	VGNC	VGNC:69137

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