MMS22L - MMS22 like, DNA repair protein Gene

Homo sapiens

Also known as C6orf167; dJ39B17.2

Gene ID: 253714 | Gene type: protein coding

About MMS22L

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:97,142,161-97,284,035 (from NCBI)

This gene has 13 transcripts (splice variants) and 189 orthologues. Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.2) and 24 other tissues.

Summary

The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

MMS22L Products(3)

mRNA	Protein	Name
NM_001350599.2	NP_001337528.1	protein MMS22-like isoform a
NM_001350600.2	NP_001337529.1	protein MMS22-like isoform b
NM_198468.4	NP_940870.2	protein MMS22-like isoform a

MMS22L Protein Structure

MMS22L_N

MMS22L_C

0
200
400
600
800
1000
1243 a.a.

Protein Preferred Names

Protein Names

protein MMS22-like

Related Diseases

Diseases

Alias

Macular Degeneration, Age-Related, 14

Age Related Macular Degeneration 14	ARMD14
Macular Degeneration, Age-Related, 14, Reduced Risk Of	Macular Degeneration, Age-Related, Type 14

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Deafness, Autosomal Dominant 66

DFNA66	Autosomal Dominant Nonsyndromic Deafness 66
Autosomal Dominant Deafness 66	Deafness, Autosomal Dominant, 66

Mirror Movements 1

Congenital Mirror Movement Disorder	Bimanual Synergia
Congenital Mirror Movements	Familial Congenital Controlateral Synkinesia
Familial Congenital Mirror Movements	Hereditary Congenital Controlateral Synkinesia
Hereditary Congenital Mirror Movements	Isolated Congenital Controlateral Synkinesia
Isolated Congenital Mirror Movements	Mirror Movements
MRMV1	Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum
Mirror Movements, Congenital	Bimanual Synkinesis
Cmm	Mirror Movements, Type 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-RS08563	MMS22L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MMS22L	VGNC	VGNC:99425
Rattus norvegicus	MMS22L	RGD	RGD:1304693
Felis catus	MMS22L	VGNC	VGNC:102463
Canis familiaris	MMS22L	VGNC	VGNC:43294
Bos taurus	MMS22L	VGNC	VGNC:31535
Mus musculus	MMS22L	MGD	MGI:2684980

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