PLEKHM1

From Wikipedia, the free encyclopedia
Pleckstrin homology domain containing, family M (with RUN domain) member 1
Identifiers
SymbolsPLEKHM1; AP162; B2; OPTB6
External IDsOMIM: 611466 MGI: 2443207 HomoloGene: 8871 GeneCards: PLEKHM1 Gene
Orthologs
SpeciesHumanMouse
Entrez9842353047
EnsemblENSG00000225190ENSMUSG00000034247
UniProtQ9Y4G2Q7TSI1
RefSeq (mRNA)NM_014798NM_183034
RefSeq (protein)NP_055613NP_898855
Location (UCSC)Chr 17:
43.51 – 43.57 Mb
Chr 11:
103.37 – 103.41 Mb
PubMed search

Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene.[1][2]

Function

PLEKHM1 may have critical function in vesicular transport in osteoclasts.[3]

Clinical significance

Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.[3]

References

  1. 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. 
  2. 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". Glycoconj. J. 18 (11-12): 915–23. doi:10.1023/A:1022256610674. PMID 12820725. 
  3. 3.0 3.1 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

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