PLEKHM1

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PLEKHM1
Identifiers
Aliases PLEKHM1, AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1
External IDs MGI: 2443207 HomoloGene: 8871 GeneCards: PLEKHM1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014798

NM_183034

RefSeq (protein)

NP_055613

NP_898855.1
NP_898855

Location (UCSC) Chr 17: 45.44 – 45.49 Mb Chr 11: 103.36 – 103.41 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene.[3][4]

Function[edit]

PLEKHM1 may have critical function in vesicular transport in osteoclasts.[5]

Clinical significance[edit]

Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841. 
  4. ^ Hartel-Schenk S, Gratchev A, Hanski ML, Ogorek D, Trendelenburg G, Hummel M, Höpfner M, Scherübl H, Zeitz M, Hanski C (2001). "Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway" (PDF). Glycoconj. J. 18 (11-12): 915–23. doi:10.1023/A:1022256610674. PMID 12820725. 
  5. ^ a b van Wesenbeeck L, Odgren PR, Mackay CA, Van Hul W (February 2004). "Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1". J. Bone Miner. Res. 19 (2): 183–9. doi:10.1359/jbmr.2004.19.2.183. PMID 14969387. 

Further reading[edit]