MANSC1 - MANSC domain containing 1 Gene

Homo sapiens

Also known as LOH12CR3; 9130403P13Rik

Gene ID: 54682 | Gene type: protein coding

About MANSC1

This gene has 4 transcripts (splice variants), 1 gene allele, 115 orthologues and 2 paralogues. Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues.

Summary

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

MANSC1 Products(2)

mRNA	Protein	Name
NM_001363613.2	NP_001350542.1	MANSC domain-containing protein 1 isoform 2
NM_018050.4	NP_060520.2	MANSC domain-containing protein 1 isoform 1 precursor

MANSC1 Protein Structure

MANEC

0
100
200
300
400
431 a.a.

Protein Preferred Names

Protein Names

MANSC domain-containing protein 1

loss of heterozygosity 12 chromosomal region 3 protein

Recombinant MANSC1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70165	MANSC1 Protein, Human (HEK293, His)	AAH32998.1 (Q27-L385)	≥95%

Related Diseases

Diseases

Alias

Temtamy Syndrome

TEMTYS	Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome	Dysmorphism, Corpus Callosum Agenesis And Colobomas
Temtamy-Shalash Syndrome	Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum

Autosomal Dominant Intellectual Developmental Disorder 6

Autosomal Dominant Non-Syndromic Intellectual Disability 6	Autosomal Dominant Mental Retardation 6
Mrd6	Mental Retardation, Autosomal Dominant, Type 6
Mental Retardation, Autosomal Dominant 6

Cantu Syndrome

Hypertrichotic Osteochondrodysplasia	Hypertrichotic Osteochondrodysplasia Cantu Type
Cantú Syndrome	Craniofaciocardioskeletal Syndrome
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome	Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum
Congenital Hypertrichosis-Coarse Facial Features Spectrum	HTOCD
Osteochondrodysplasia, Hypertrichotic

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

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-RS08018	MANSC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MANSC1	VGNC	VGNC:31172
Rattus norvegicus	MANSC1	RGD	RGD:1593458
Macaca mulatta	MANSC1	VGNC	VGNC:74358
Mus musculus	MANSC1	MGD	MGI:1914979
Canis familiaris	MANSC1	VGNC	VGNC:42952
Others	MANSC1	NCBI

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