PLEKHM1 - pleckstrin homology and RUN domain containing M1 Gene

Homo sapiens

Also known as B2; AP162; OPTA3; OPTB6

Gene ID: 9842 | Gene type: protein coding

About PLEKHM1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,434,209-45,490,721 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 224 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 12.9), bone marrow (RPKM 10.7) and 25 other tissues.

Summary

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

PLEKHM1 Products(2)

mRNA	Protein	Name
NM_001352825.2	NP_001339754.1	pleckstrin homology domain-containing family M member 1 isoform 2
NM_014798.3	NP_055613.1	pleckstrin homology domain-containing family M member 1 isoform 1

PLEKHM1 Protein Structure

RUN

zf-RING_9

0
200
400
600
800
1000
1056 a.a.

Protein Preferred Names

Protein Names

pleckstrin homology domain-containing family M member 1

162 kDa adapter protein

Related Diseases

Diseases

Alias

Osteopetrosis, Autosomal Recessive 6

OPTB6	Autosomal Recessive Osteopetrosis 6
Autosomal Recessive Osteopetrosis Intermediate Form	Osteopetrosis, Autosomal Recessive, Intermediate Form
Osteopetrosis Autosomal Recessive 6	Autosomal Recessive Osteopetrosis Type 6
Osteopetrosis Autosomal Recessive Intermediate Form	Intermediate Osteopetrosis
Autosomal Recessive Intermediate Osteopetrosis	Osteopetrosis, Autosomal Recessive, Type 6

Osteopetrosis, Autosomal Dominant 3

OPTA3

Osteopetrosis

Marble Bone Disease	Albers-Schonberg Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Osteopetrosis, Autosomal Recessive 2

OPTB2	Autosomal Recessive Osteopetrosis 2
Osteopetrosis, Mild Autosomal Recessive Form	Osteoclast-Poor Osteopetrosis
Osteopetrosis, Osteoclast-Poor	Mild Autosomal Recessive Form Osteopetrosis
Osteopetrosis Autosomal Recessive 2	Autosomal Recessive Osteopetrosis Type 2
Osteopetrosis Osteoclast-Poor	Osteopetrosis, Autosomal Recessive, Type 2

Pycnodysostosis

Pyknodysostosis	PKND
Pycd	Toulouse-Lautrec Syndrome

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10697	PLEKHM1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PLEKHM1	MGD	MGI:2443207
Bos taurus	PLEKHM1	VGNC	VGNC:57148
Rattus norvegicus	PLEKHM1	RGD	RGD:1308010
Macaca mulatta	PLEKHM1	VGNC	VGNC:99206

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