PLEKHM1

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Pleckstrin homology domain containing, family M (with RUN domain) member 1
Identifiers
Symbols PLEKHM1 ; AP162; B2; OPTB6
External IDs OMIM611466 MGI2443207 HomoloGene8871 GeneCards: PLEKHM1 Gene
Orthologs
Species Human Mouse
Entrez 9842 353047
Ensembl ENSG00000225190 ENSMUSG00000034247
UniProt Q9Y4G2 Q7TSI1
RefSeq (mRNA) NM_014798 NM_183034
RefSeq (protein) NP_055613 NP_898855
Location (UCSC) Chr 17:
43.51 – 43.57 Mb
Chr 11:
103.37 – 103.41 Mb
PubMed search [1] [2]

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[edit]

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

Clinical significance[edit]

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

References[edit]

  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" (PDF). Glycoconj. J. 18 (11-12): 915–23. doi:10.1023/A:1022256610674. PMID 12820725. 
  3. ^ 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]