MAB21L1 - mab-21 like 1 Gene

Homo sapiens

Also known as COFG; CAGR1; Nbla00126

Gene ID: 4081 | Gene type: protein coding

About MAB21L1

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:35,473,789-35,476,689 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues, 9 paralogues and is associated with 2 phenotypes.

Summary

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]

MAB21L1 Products(1)

mRNA	Protein	Name
NM_005584.5	NP_005575.1	putative nucleotidyltransferase MAB21L1

MAB21L1 Protein Structure

Mab-21

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

putative nucleotidyltransferase MAB21L1

mab-21-like protein 1

Related Diseases

Diseases

Alias

Cerebellar, Ocular, Craniofacial, And Genital Syndrome

COFG

Cerebellar Hypoplasia

Hydrophthalmos

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS07938	MAB21L1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MAB21L1	VGNC	VGNC:31127
Macaca mulatta	MAB21L1	VGNC	VGNC:74470
Felis catus	MAB21L1	VGNC	VGNC:68121
Mus musculus	MAB21L1	MGD	MGI:1333773
Canis familiaris	MAB21L1	VGNC	VGNC:42910
Rattus norvegicus	MAB21L1	RGD	RGD:1589984

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