Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

MUCOLIPIN 1

Synonyms

MCOLN1

ML4 GENE

TRPML1

TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 1

MUCOLIPIDOSIS IV

MUCOLIPIDIN

ID

http://purl.bioontology.org/ontology/OMIM/605248

altLabel

MCOLN1

ML4 GENE

TRPML1

TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 1

MUCOLIPIDOSIS IV

MUCOLIPIDIN

cui

C0238286

C1421947

Gene Locus

19p13.3-p13.2

Gene Symbol

ML4

MCOLN1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/605248.0007

http://purl.bioontology.org/ontology/OMIM/605248.0003

http://purl.bioontology.org/ontology/OMIM/605248.0001

http://purl.bioontology.org/ontology/OMIM/605248.0009

http://purl.bioontology.org/ontology/OMIM/605248.0008

http://purl.bioontology.org/ontology/OMIM/605248.0002

http://purl.bioontology.org/ontology/OMIM/605248.0004

http://purl.bioontology.org/ontology/OMIM/605248.0005

http://purl.bioontology.org/ontology/OMIM/605248.0006

MIMTYPEMEANING

Gene with known sequence

notation

605248

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

MUCOLIPIN 1

tui

T047

T028

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