Orphanet: granulin precursor

Search for a gene

GRN - granulin precursor

Synonym(s) : CLN11, PCDGF, PGRN, progranulin
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 17q21.31
OMIM: 138945
HGNC: 4601
UniProtKB: P28799
Genatlas: GRN
GenCC: GRN
Ensembl: ENSG00000030582
IUPHAR-DB: -
Reactome: P28799
LOVD: GRN

Diseases list

Disease-causing germline mutation(s) in Adult neuronal ceroid lipofuscinosis ORPHA:79262
Disease-causing germline mutation(s) in Congenital neuronal ceroid lipofuscinosis ORPHA:168486
Disease-causing germline mutation(s) in Infantile neuronal ceroid lipofuscinosis ORPHA:79263
Disease-causing germline mutation(s) in Juvenile neuronal ceroid lipofuscinosis ORPHA:79264
Disease-causing germline mutation(s) in Late infantile neuronal ceroid lipofuscinosis ORPHA:168491
Major susceptibility factor in Behavioral variant of frontotemporal dementia ORPHA:275864
Major susceptibility factor in Progressive non-fluent aphasia ORPHA:100070
Major susceptibility factor in Semantic dementia ORPHA:100069

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (68)

Research activities on this gene

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.