Serpin Peptidase Inhibitor, Clade F, Member 1

Alternative Names

SERPINF1
Pigment Epithelium-Derived Factor
PEDF

Length

15,506 bases

No. of Exons

No. of isoforms

Protein Name

Pigment epithelium-derived factor

Molecular Mass

46312 Da

Amino Acid Count

418

Genomic Location

chr17:1,762,059-1,777,564

Gene Map Locus

17p13.3

Description

This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. [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_002615.7:c.1118_1119del	Saudi Arabia	NC_000017.11:g.1777307_1777308del		Pathogenic	Osteogenesis Imperfecta, Type VI	NG_028180.1:g.20343_20344del; NM_002615.7:c.1118_1119del; NP_002606.3:p.Pro373GlnfsTer18
NM_002615.7:c.653del	Saudi Arabia	NC_000017.11:g.1775067del	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type VI	NG_028180.1:g.18103del; NM_002615.7:c.653del; NP_002606.3:p.Val218GlufsTer22	398122520	41894
NM_002615.7:c.696C>G	United Arab Emirates	NC_000017.11:g.1775110C>G	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type VI	NG_028180.1:g.18146C>G; NM_002615.7:c.696C>G; NP_002606.3:p.Tyr232Ter	193302872	31851
NM_002615.7:c.-9+2dup	Saudi Arabia	NC_000017.11:g.1762115dup	Pathogenic	Likely Pathogenic	Osteogenesis Imperfecta, Type VI	NG_028180.1:g.5151dup; NM_002615.7:c.-9+2dup	398122519	41893

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=serpinf1

Contributors

Asha Deepthi: 16.09.2022
Asha Deepthi: 16.02.2022
Sayeeda Hana: 24.10.2021

Edit History

Asha Deepthi: 16.09.2022
Asha Deepthi: 16.02.2022
Sayeeda Hana: 24.10.2021
Pratibha Nair: 07.12.2014

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