SMC1B - structural maintenance of chromosomes 1B Gene

Homo sapiens

Also known as SMC1L2; SMC1BETA

Gene ID: 27127 | Gene type: protein coding

About SMC1B

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:45,344,063-45,413,599 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues and 7 paralogues. Restricted expression toward testis (RPKM 20.7).

Summary

SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]

SMC1B Products(2)

mRNA	Protein	Name
NM_001291501.2	NP_001278430.1	structural maintenance of chromosomes protein 1B isoform 2
NM_148674.5	NP_683515.4	structural maintenance of chromosomes protein 1B isoform 1

SMC1B Protein Structure

SMC_N

SMC_hinge

0
200
400
600
800
1000
1235 a.a.

Protein Preferred Names

Protein Names

structural maintenance of chromosomes protein 1B

SMC protein 1B

Related Diseases

Diseases

Alias

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

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

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-RS13417	SMC1B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SMC1B	VGNC	VGNC:77657
Mus musculus	SMC1B	MGD	MGI:2154049
Bos taurus	SMC1B	VGNC	VGNC:34998
Canis familiaris	SMC1B	VGNC	VGNC:46542
Rattus norvegicus	SMC1B	RGD	RGD:1308791
Felis catus	SMC1B	VGNC	VGNC:65475

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