MAB21-Like 1

Alternative Names

MAB21L1
MAB21, C. elegans, Homolog-Like 1
CAGR1

Length

2,901 bases

No. of Exons

No. of isoforms

Protein Name

Putative nucleotidyltransferase MAB21L1

Molecular Mass

40956 Da

Amino Acid Count

359

Genomic Location

chr13:35,473,789-35,476,689

Gene Map Locus

13q13.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005584.5:c.279_286del	Lebanon	chr13:35475860-35475853		Pathogenic		NG_028156.1:g.538574_538567delNP_005575.1:p.Ser93fs*48

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=MAB21L1 https://www.ncbi.nlm.nih.gov/gene/4081

Contributors

Pratibha Nair: 04.10.2020

Edit History

Pratibha Nair: 04.10.2020

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