MAP7 Domain-Containing Protein 3

Alternative Names

MAP7D3

Length

43,263 bases

No. of Exons

No. of isoforms

Protein Name

MAP7 domain-containing protein 3

Molecular Mass

98429 Da

Amino Acid Count

876

Genomic Location

chrX:136,213,220-136,256,482

Gene Map Locus

Xq26.3

Description

The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_024597.4:c.2174_2177del	Tunisia	NC_000023.11:g.136224846_136224849del		Likely Pathogenic		NG_016801.1:g.36637_36640del; NM_024597.4:c.2174_2177del; NP_078873.2:p.Thr725MetfsTer2	2074176068

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Other Reports

Lebanon

Khoury et al. (2019) described a young female patient with depressive symptoms and aggressive behaviour. She was found to carry a microduplication on the X chromosome, encompassing a 14 kb region. The authors speculated that the mutated gene could potentially be associated with at least part of the pateint's clinical presentation.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP7D3

Contributors

Pratibha Nair: 27.05.2020
Sayeeda Hana: 11.10.2017

Edit History

Asha Deepthi: 11.03.2025
Pratibha Nair: 27.05.2020
Pratibha Nair: 10.12.2017

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