Mouse Anti-PTDSS1 Recombinant Antibody (B-5) (CBMAB-P3299-YC)

Name: Mouse Anti-PTDSS1 Recombinant Antibody (B-5)
SKU: CBMAB-P3299-YC
Rating: 5 (1 reviews)

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Datasheet

SDS

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Basic Information

Host Animal

Mouse

Clone

B-5

Application

WB, IP, IF, ELISA

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage

Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

Phosphatidylserine synthase 1

Introduction

PTDSS1 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.

Entrez Gene ID

Human	9791
Mouse	19210
Rat	314553

UniProt ID

Human	P48651
Mouse	Q99LH2
Rat	Q5PQL5

Alternative Names

LMHD; PSS1; PSSA

Function

Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535).
Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535).
Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535).

Biological Process

Phosphatidylserine biosynthetic processManual Assertion Based On ExperimentIDA:FlyBase

Involvement in disease

Lenz-Majewski hyperostotic dwarfism (LMHD):
A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction.

Topology

Cytoplasmic: 2-35
Helical: 36-56
Lumenal: 57-72
Helical: 73-93
Cytoplasmic: 94-102
Helical: 103-123
Lumenal: 124-186
Helical: 187-207
Cytoplasmic: 208-216
Helical: 217-237
Lumenal: 238-286
Helical: 287-307
Cytoplasmic: 308-319
Helical: 320-342
Cytoplasmic: 343-355
Helical: 356-376
Lumenal: 377-383
Helical: 384-404
Cytoplasmic: 405-473

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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