MLH3 - mutL homolog 3 Gene

Homo sapiens

Also known as HNPCC7

Gene ID: 27030 | Gene type: protein coding

About MLH3

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:75,013,775-75,051,467 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 5.0), adrenal (RPKM 3.9) and 25 other tissues.

Summary

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal Cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

MLH3 Products(2)

mRNA	Protein	Name
NM_001040108.2	NP_001035197.1	DNA mismatch repair protein Mlh3 isoform 1
NM_014381.3	NP_055196.2	DNA mismatch repair protein Mlh3 isoform 2

MLH3 Protein Structure

HATPase_c

DNA_mis_repair

MutL_C

0
300
600
900
1200
1453 a.a.

Protein Preferred Names

Protein Names

DNA mismatch repair protein Mlh3

Related Diseases

Diseases

Alias

Colorectal Cancer, Hereditary Nonpolyposis, Type 7

HNPCC7	Hereditary Nonpolyposis Colorectal Cancer Type 7
Hereditary Non-Polyposis Colorectal Cancer 7	Cancer, Colorectal, Nonpolyposis, Hereditary, Type 7

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Colorectal Cancer 7

Colorectal Cancer, Susceptibility To, 7	CRCS7
Colorectal Cancer On Chromosome 11	Colorectal Cancer, Susceptibility To, On Chromosome 11

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Mismatch Repair Cancer Syndrome

Turcot Syndrome	Brain Tumor-Polyposis Syndrome 1
Btp1 Syndrome	Btps1
Childhood Cancer Syndrome	Cmmr-D Syndrome
Cmmrds	Constitutional Mismatch Repair Deficiency Syndrome
Mmr Deficiency	Cancer Syndrome, Mismatch Repair
Malignant Childhood Neoplasm

Familial Adenomatous Polyposis 2

Mutyh-Related Attenuated Familial Adenomatous Polyposis	FAP2
Colorectal Adenomatous Polyposis, Autosomal Recessive	Adenomas, Multiple Colorectal
Mutyh-Associated Polyposis	Mutyh-Related Attenuated Familial Polyposis Coli
Mutyh-Related Attenuated Fap	Adenomas, Multiple Colorectal, Autosomal Recessive
Mutyh-Related Afap	Adenomas Multiple Colorectal Autosomal Recessive
Colorectal Adenomatous Polyposis Autosomal Recessive	Adenomatous Polyposis, Familial, Type 2

Muir-Torre Syndrome

MRTES	Keratoacanthoma
Muir-Torré Syndrome	Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas
Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas	Multiple Keratoacanthoma, Muir-Torre Type
Mts	Torre-Muir Syndrome

Cowden Syndrome

Cowden Disease	Multiple Hamartoma Syndrome
Cowden'S Disease	Lhermitte-Duclos Disease
Cd	Cs
Mham	Dysplastic Gangliocytoma Of Cerebellum
Cowden'S Syndrome	Hamartoma Syndrome, Multiple

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

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-RS08490	MLH3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MLH3	MGD	MGI:1353455
Rattus norvegicus	MLH3	RGD	RGD:1309227
Bos taurus	MLH3	VGNC	VGNC:31498
Macaca mulatta	MLH3	VGNC	VGNC:82187
Felis catus	MLH3	VGNC	VGNC:68269
Canis familiaris	MLH3	VGNC	VGNC:43258

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