X-Nico

28 unusual facts about Microphthalmia-associated transcription factor

ATP6V1B2

In melanocytic cells ATP6V1B2 gene expression may be regulated by MITF.

ATP6V1C1

In melanocytic cells ATP6V1C1 gene expression may be regulated by MITF.

CA14

In melanocytic cells CA14 gene expression may be regulated by MITF.

CHKA

In melanocytic cells CHKA gene expression may be regulated by MITF.

CPN1

In melanocytic cells CPN1 gene expression may be regulated by MITF.

DAPK1

In melanocytic cells DAPK1 gene expression may be regulated by MITF.

DUSP4

In melanocytic cells DUSP4 gene expression may be regulated by MITF.

DYNC1I1

In melanocytic cells DYNC1I1 gene expression may be regulated by MITF.

GAPDHS

In melanocytic cells GAPDHS gene expression may be regulated by MITF.

GPM6B

In melanocytic cells GPM6B gene expression may be regulated by MITF.

HPGD

In melanocytic cells HPGD gene expression may be regulated by MITF.

HPS4

In melanocytic cells HPS4 gene expression may be regulated by MITF.

IVNS1ABP

In melanocytic cells IVNS1ABP gene expression may be regulated by MITF.

Lysosomal trafficking regulator

In melanocytic cells LYST gene expression may be regulated by MITF.

LZTS1

In melanocytic cells LZTS1 gene expression may be regulated by MITF.

N-acetylglucosamine-1-phosphate transferase

In melanocytic cells GNPTG gene expression may be regulated by MITF.

Proteolipid protein 1

In melanocytic cells PLP1 gene expression may be regulated by MITF.

RAB17

In melanocytic cells RAB17 gene expression may be regulated by MITF.

RAB38

In melanocytic cells RAB38 gene expression may be regulated by MITF.

RIPK5

In melanocytic cells RIPK5 gene expression may be regulated by MITF.

SEMA6A

In melanocytic cells SEMA6A gene expression may be regulated by MITF.

SGK3

In melanocytic cells SGK3 gene expression may be regulated by MITF.

ST8SIA1

In melanocytic cells ST8SIA1 gene expression may be regulated by MITF.

TDRD7

In melanocytic cells TDRD7 gene expression may be regulated by MITF.

UBL3

In melanocytic cells UBL3 gene expression may be regulated by MITF.

USP48

In melanocytic cells USP48 gene expression may be regulated by MITF.

VAT1

In melanocytic cells VAT1 gene expression may be regulated by MITF.

ZFYVE16

In melanocytic cells ZFYVE16 gene expression may be regulated by MITF.

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Lenz microphthalmia syndrome

Molecular genetic testing of BCOR (MCOPS2 locus), the only gene known to be associated with Lenz microphthalmia syndrome, is available on a clinical basis.