MKLN1 - muskelin 1 Gene

Homo sapiens

Also known as TWA2

Gene ID: 4289 | Gene type: protein coding

About MKLN1

Cytogenetic location: 7q32.3 Genomic coordinates (GRCh38): 7:131,110,094-131,496,632 (from NCBI)

This gene has 12 transcripts (splice variants) and 214 orthologues. Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues.

Summary

Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]

MKLN1 Products(3)

mRNA	Protein	Name
NM_001145354.2	NP_001138826.1	muskelin isoform 1
NM_001321316.2	NP_001308245.1	muskelin isoform 3
NM_013255.5	NP_037387.2	muskelin isoform 2

MKLN1 Protein Structure

Muskelin_N

Kelch_3

Kelch_4

0
200
400
600
735 a.a.

Protein Preferred Names

Protein Names

muskelin

muskelin 1, intracellular mediator containing kelch motifs

Related Diseases

Diseases

Alias

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Acrodermatitis

Lissencephaly 1

LIS1	Classic Lissencephaly
Ils	Subcortical Laminar Heterotopia
Lissencephaly Due To Lis1 Mutation	Lissencephaly Sequence, Isolated
Lissencephaly, Classic	Pafah1b1-Related Lissencephaly
Classical Lissencephaly	Lissencephaly Type 1
Lissencephaly-1	Subcortical Band Heterotopia
Double Cortex	Lissencephaly Classic
Lissencephaly Sequence Isolated	Isolated Lissencephaly Sequence
Type 1 Lissencephaly	Lissencephaly Syndrome Type 1
SBH	Sclh
Lissencephaly, Type 1	Type I Lissencephaly

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-RS08472	MKLN1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MKLN1	RGD	RGD:620076
Bos taurus	MKLN1	VGNC	VGNC:31490
Canis familiaris	MKLN1	VGNC	VGNC:43250
Mus musculus	MKLN1	MGD	MGI:1351638
Felis catus	MKLN1	VGNC	VGNC:68262
Macaca mulatta	MKLN1	VGNC	VGNC:74875

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