PTDSS1
Identifiers
AliasesPTDSS1, LMHD, PSS1, PSSA, phosphatidylserine synthase 1
External IDsOMIM: 612792 MGI: 1276575 HomoloGene: 7494 GeneCards: PTDSS1
Orthologs
SpeciesHumanMouse
Entrez

9791

19210

Ensembl

ENSG00000156471

ENSMUSG00000021518

UniProt

P48651

Q99LH2

RefSeq (mRNA)

NM_014754
NM_001290225

NM_008959

RefSeq (protein)

NP_001277154
NP_055569

NP_032985

Location (UCSC)Chr 8: 96.26 – 96.34 MbChr 13: 67.08 – 67.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene. [5]

Function

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine synthase 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].

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000156471 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021518 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Phosphatidylserine synthase 1". Retrieved 2018-06-07.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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